a report of the alopecia areata registry, biobank and clinical trials network 2000-2016
TRANSCRIPT
Progress ReportNAAF Research Summit
November 15 2016
To find and collect samples and epidemiologic information from multiplex families siblings and individuals with alopecia areata of all severities
2 To encourage genetic and translational research using the data and samples from the registry
3 Information used to understand disease find effective treatments support clinical trials and cure AA
University of Texas MD Anderson Houston is
Central Site ndash Joyce Osei Coordinator
Dr Madeleine Duvic ndash principal investigator
University of Minnesota Dr Maria Hordinsky
Columbia University Dr Angela Christiano
University of California San Francisco Dr Vera Price
University of Colorado Dr David Norris
Funded initially by NIAMS
July 2000 through March 29 2012
July 2000 through September 29 2005
Renewal September 30 2005 through September 29 2010
No Cost Extension September 30 2010 to March 29 2012
Funded by the National Alopecia Areata Foundation
March 30 2012 through Dec 2016
Patients diagnosed by a Dermatologist ndash
Agree to enter data in short form and have that data used for research studies
Any age or sex ndash children entered by parents
Live in the United States- E-mailed all AAD members forms down-load friendly
To participate in Long Form ndash written consent enter more detailed information and have blood drawn for serum DNA lymphoblast cell lines
alopeciaareataregistryorg
M Duvic PI MDACC
Joyce Osei
Coordinator
Houston Texas
COLUMBIA
NYC
University of Minnesota
University of
ColoradoUNIVERSITY
CALIF SF
STEERING COMMITTEE
NIAMS NAAF
Web site amp Database
PATIENT ENTRY
PATIENT ENTRY
Alopeciaareataregistryorg
Private derms
Patient accessed website alopeciaareataregistryorg
Central Microsoft ACCESS relational database
Contains the clinical and laboratory information on
the subjects linked to the samples
Short Form self-reported Database
Long Form Database
Lab database for sample bank tracking
Quality of Life Database
Agreed to participate by computer or paper mail in
Alopecia Areata 8528 diagnosed by Dermatologist
AU 2617 universalis ndashall hair lossAT 1088 totalis ndash all scalp hair lossAAP 2422 Patchy persistant AA
AAT 2401 Transient AA lt 6 -12 mos
2011 controls unaffected unrelated controls or unaffected relatives
7059 adult females2936 adult males
707 female children 478 male children
White = 8342
Black = 618
Hispanic = 688
Asian = 400
Amer IndianAlska Native = 33
Nat HawaiiOther Pacific = 28
Mixed = 589
Others = 143 or Unknown= 339
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
To find and collect samples and epidemiologic information from multiplex families siblings and individuals with alopecia areata of all severities
2 To encourage genetic and translational research using the data and samples from the registry
3 Information used to understand disease find effective treatments support clinical trials and cure AA
University of Texas MD Anderson Houston is
Central Site ndash Joyce Osei Coordinator
Dr Madeleine Duvic ndash principal investigator
University of Minnesota Dr Maria Hordinsky
Columbia University Dr Angela Christiano
University of California San Francisco Dr Vera Price
University of Colorado Dr David Norris
Funded initially by NIAMS
July 2000 through March 29 2012
July 2000 through September 29 2005
Renewal September 30 2005 through September 29 2010
No Cost Extension September 30 2010 to March 29 2012
Funded by the National Alopecia Areata Foundation
March 30 2012 through Dec 2016
Patients diagnosed by a Dermatologist ndash
Agree to enter data in short form and have that data used for research studies
Any age or sex ndash children entered by parents
Live in the United States- E-mailed all AAD members forms down-load friendly
To participate in Long Form ndash written consent enter more detailed information and have blood drawn for serum DNA lymphoblast cell lines
alopeciaareataregistryorg
M Duvic PI MDACC
Joyce Osei
Coordinator
Houston Texas
COLUMBIA
NYC
University of Minnesota
University of
ColoradoUNIVERSITY
CALIF SF
STEERING COMMITTEE
NIAMS NAAF
Web site amp Database
PATIENT ENTRY
PATIENT ENTRY
Alopeciaareataregistryorg
Private derms
Patient accessed website alopeciaareataregistryorg
Central Microsoft ACCESS relational database
Contains the clinical and laboratory information on
the subjects linked to the samples
Short Form self-reported Database
Long Form Database
Lab database for sample bank tracking
Quality of Life Database
Agreed to participate by computer or paper mail in
Alopecia Areata 8528 diagnosed by Dermatologist
AU 2617 universalis ndashall hair lossAT 1088 totalis ndash all scalp hair lossAAP 2422 Patchy persistant AA
AAT 2401 Transient AA lt 6 -12 mos
2011 controls unaffected unrelated controls or unaffected relatives
7059 adult females2936 adult males
707 female children 478 male children
White = 8342
Black = 618
Hispanic = 688
Asian = 400
Amer IndianAlska Native = 33
Nat HawaiiOther Pacific = 28
Mixed = 589
Others = 143 or Unknown= 339
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
University of Texas MD Anderson Houston is
Central Site ndash Joyce Osei Coordinator
Dr Madeleine Duvic ndash principal investigator
University of Minnesota Dr Maria Hordinsky
Columbia University Dr Angela Christiano
University of California San Francisco Dr Vera Price
University of Colorado Dr David Norris
Funded initially by NIAMS
July 2000 through March 29 2012
July 2000 through September 29 2005
Renewal September 30 2005 through September 29 2010
No Cost Extension September 30 2010 to March 29 2012
Funded by the National Alopecia Areata Foundation
March 30 2012 through Dec 2016
Patients diagnosed by a Dermatologist ndash
Agree to enter data in short form and have that data used for research studies
Any age or sex ndash children entered by parents
Live in the United States- E-mailed all AAD members forms down-load friendly
To participate in Long Form ndash written consent enter more detailed information and have blood drawn for serum DNA lymphoblast cell lines
alopeciaareataregistryorg
M Duvic PI MDACC
Joyce Osei
Coordinator
Houston Texas
COLUMBIA
NYC
University of Minnesota
University of
ColoradoUNIVERSITY
CALIF SF
STEERING COMMITTEE
NIAMS NAAF
Web site amp Database
PATIENT ENTRY
PATIENT ENTRY
Alopeciaareataregistryorg
Private derms
Patient accessed website alopeciaareataregistryorg
Central Microsoft ACCESS relational database
Contains the clinical and laboratory information on
the subjects linked to the samples
Short Form self-reported Database
Long Form Database
Lab database for sample bank tracking
Quality of Life Database
Agreed to participate by computer or paper mail in
Alopecia Areata 8528 diagnosed by Dermatologist
AU 2617 universalis ndashall hair lossAT 1088 totalis ndash all scalp hair lossAAP 2422 Patchy persistant AA
AAT 2401 Transient AA lt 6 -12 mos
2011 controls unaffected unrelated controls or unaffected relatives
7059 adult females2936 adult males
707 female children 478 male children
White = 8342
Black = 618
Hispanic = 688
Asian = 400
Amer IndianAlska Native = 33
Nat HawaiiOther Pacific = 28
Mixed = 589
Others = 143 or Unknown= 339
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Funded initially by NIAMS
July 2000 through March 29 2012
July 2000 through September 29 2005
Renewal September 30 2005 through September 29 2010
No Cost Extension September 30 2010 to March 29 2012
Funded by the National Alopecia Areata Foundation
March 30 2012 through Dec 2016
Patients diagnosed by a Dermatologist ndash
Agree to enter data in short form and have that data used for research studies
Any age or sex ndash children entered by parents
Live in the United States- E-mailed all AAD members forms down-load friendly
To participate in Long Form ndash written consent enter more detailed information and have blood drawn for serum DNA lymphoblast cell lines
alopeciaareataregistryorg
M Duvic PI MDACC
Joyce Osei
Coordinator
Houston Texas
COLUMBIA
NYC
University of Minnesota
University of
ColoradoUNIVERSITY
CALIF SF
STEERING COMMITTEE
NIAMS NAAF
Web site amp Database
PATIENT ENTRY
PATIENT ENTRY
Alopeciaareataregistryorg
Private derms
Patient accessed website alopeciaareataregistryorg
Central Microsoft ACCESS relational database
Contains the clinical and laboratory information on
the subjects linked to the samples
Short Form self-reported Database
Long Form Database
Lab database for sample bank tracking
Quality of Life Database
Agreed to participate by computer or paper mail in
Alopecia Areata 8528 diagnosed by Dermatologist
AU 2617 universalis ndashall hair lossAT 1088 totalis ndash all scalp hair lossAAP 2422 Patchy persistant AA
AAT 2401 Transient AA lt 6 -12 mos
2011 controls unaffected unrelated controls or unaffected relatives
7059 adult females2936 adult males
707 female children 478 male children
White = 8342
Black = 618
Hispanic = 688
Asian = 400
Amer IndianAlska Native = 33
Nat HawaiiOther Pacific = 28
Mixed = 589
Others = 143 or Unknown= 339
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Patients diagnosed by a Dermatologist ndash
Agree to enter data in short form and have that data used for research studies
Any age or sex ndash children entered by parents
Live in the United States- E-mailed all AAD members forms down-load friendly
To participate in Long Form ndash written consent enter more detailed information and have blood drawn for serum DNA lymphoblast cell lines
alopeciaareataregistryorg
M Duvic PI MDACC
Joyce Osei
Coordinator
Houston Texas
COLUMBIA
NYC
University of Minnesota
University of
ColoradoUNIVERSITY
CALIF SF
STEERING COMMITTEE
NIAMS NAAF
Web site amp Database
PATIENT ENTRY
PATIENT ENTRY
Alopeciaareataregistryorg
Private derms
Patient accessed website alopeciaareataregistryorg
Central Microsoft ACCESS relational database
Contains the clinical and laboratory information on
the subjects linked to the samples
Short Form self-reported Database
Long Form Database
Lab database for sample bank tracking
Quality of Life Database
Agreed to participate by computer or paper mail in
Alopecia Areata 8528 diagnosed by Dermatologist
AU 2617 universalis ndashall hair lossAT 1088 totalis ndash all scalp hair lossAAP 2422 Patchy persistant AA
AAT 2401 Transient AA lt 6 -12 mos
2011 controls unaffected unrelated controls or unaffected relatives
7059 adult females2936 adult males
707 female children 478 male children
White = 8342
Black = 618
Hispanic = 688
Asian = 400
Amer IndianAlska Native = 33
Nat HawaiiOther Pacific = 28
Mixed = 589
Others = 143 or Unknown= 339
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
alopeciaareataregistryorg
M Duvic PI MDACC
Joyce Osei
Coordinator
Houston Texas
COLUMBIA
NYC
University of Minnesota
University of
ColoradoUNIVERSITY
CALIF SF
STEERING COMMITTEE
NIAMS NAAF
Web site amp Database
PATIENT ENTRY
PATIENT ENTRY
Alopeciaareataregistryorg
Private derms
Patient accessed website alopeciaareataregistryorg
Central Microsoft ACCESS relational database
Contains the clinical and laboratory information on
the subjects linked to the samples
Short Form self-reported Database
Long Form Database
Lab database for sample bank tracking
Quality of Life Database
Agreed to participate by computer or paper mail in
Alopecia Areata 8528 diagnosed by Dermatologist
AU 2617 universalis ndashall hair lossAT 1088 totalis ndash all scalp hair lossAAP 2422 Patchy persistant AA
AAT 2401 Transient AA lt 6 -12 mos
2011 controls unaffected unrelated controls or unaffected relatives
7059 adult females2936 adult males
707 female children 478 male children
White = 8342
Black = 618
Hispanic = 688
Asian = 400
Amer IndianAlska Native = 33
Nat HawaiiOther Pacific = 28
Mixed = 589
Others = 143 or Unknown= 339
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
M Duvic PI MDACC
Joyce Osei
Coordinator
Houston Texas
COLUMBIA
NYC
University of Minnesota
University of
ColoradoUNIVERSITY
CALIF SF
STEERING COMMITTEE
NIAMS NAAF
Web site amp Database
PATIENT ENTRY
PATIENT ENTRY
Alopeciaareataregistryorg
Private derms
Patient accessed website alopeciaareataregistryorg
Central Microsoft ACCESS relational database
Contains the clinical and laboratory information on
the subjects linked to the samples
Short Form self-reported Database
Long Form Database
Lab database for sample bank tracking
Quality of Life Database
Agreed to participate by computer or paper mail in
Alopecia Areata 8528 diagnosed by Dermatologist
AU 2617 universalis ndashall hair lossAT 1088 totalis ndash all scalp hair lossAAP 2422 Patchy persistant AA
AAT 2401 Transient AA lt 6 -12 mos
2011 controls unaffected unrelated controls or unaffected relatives
7059 adult females2936 adult males
707 female children 478 male children
White = 8342
Black = 618
Hispanic = 688
Asian = 400
Amer IndianAlska Native = 33
Nat HawaiiOther Pacific = 28
Mixed = 589
Others = 143 or Unknown= 339
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Patient accessed website alopeciaareataregistryorg
Central Microsoft ACCESS relational database
Contains the clinical and laboratory information on
the subjects linked to the samples
Short Form self-reported Database
Long Form Database
Lab database for sample bank tracking
Quality of Life Database
Agreed to participate by computer or paper mail in
Alopecia Areata 8528 diagnosed by Dermatologist
AU 2617 universalis ndashall hair lossAT 1088 totalis ndash all scalp hair lossAAP 2422 Patchy persistant AA
AAT 2401 Transient AA lt 6 -12 mos
2011 controls unaffected unrelated controls or unaffected relatives
7059 adult females2936 adult males
707 female children 478 male children
White = 8342
Black = 618
Hispanic = 688
Asian = 400
Amer IndianAlska Native = 33
Nat HawaiiOther Pacific = 28
Mixed = 589
Others = 143 or Unknown= 339
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Agreed to participate by computer or paper mail in
Alopecia Areata 8528 diagnosed by Dermatologist
AU 2617 universalis ndashall hair lossAT 1088 totalis ndash all scalp hair lossAAP 2422 Patchy persistant AA
AAT 2401 Transient AA lt 6 -12 mos
2011 controls unaffected unrelated controls or unaffected relatives
7059 adult females2936 adult males
707 female children 478 male children
White = 8342
Black = 618
Hispanic = 688
Asian = 400
Amer IndianAlska Native = 33
Nat HawaiiOther Pacific = 28
Mixed = 589
Others = 143 or Unknown= 339
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
7059 adult females2936 adult males
707 female children 478 male children
White = 8342
Black = 618
Hispanic = 688
Asian = 400
Amer IndianAlska Native = 33
Nat HawaiiOther Pacific = 28
Mixed = 589
Others = 143 or Unknown= 339
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
White = 8342
Black = 618
Hispanic = 688
Asian = 400
Amer IndianAlska Native = 33
Nat HawaiiOther Pacific = 28
Mixed = 589
Others = 143 or Unknown= 339
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
bull 4196 of the 11180 or 38 of 1st tier patients
completed Second Tier registration
bull 51 of Children have completed the Second
Tier registration
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Requires written consent and exam at one of 5 sites or by local dermatologist 38 male and 62 female
Participants donate blood or saliva
Blood samples in 2998 AA patients 693 controls
Lymphoblast lines and lymphocytes
DNA from extracted from blood
Sera 10 vials per subject (200ul ndash 1000ul)
Offsite Storagendash CryoGene ndash Houston amp Columbia
Saliva - 250 (mostly children with AU AT)
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
First Tier Second enrolled
White 7860 2906 38
Black 585 162 30
Hispanic 651 273 41
Asian 379 189 50
Mixed 550 228 42
Others 135 98 72
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
0
500
1000
1500
2000
2500
3000
First Tier Singles 2nd Tier Registrants
AAP
AAT
AT
AU
Controls
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
49 Multiplex families (3 or more affected)
88 Sib-pairs
115 Simplex ndash 2 in family
2435 Single patients
427 Unaffected controls
Linkage ndash 8 genetic loci
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
0
1
2
3
4
5
6
7
8
0 10 20 30 40 50 60 70 80
Age of Onset (years)
Perc
en
tag
e o
f In
div
idu
als
Aff
ec
ted
(
)
AU
AT
AAP
AAT1amp2
AGE OF ONSET vs AA INDIVIDUALS AFFECTED
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
5050 AA vs 859 controls ndash age of onset
57 with early onset of AA before age 20
Males develop AA 25 yrs earlier than females
AU and AT onset is earlier than AAP AAT (plt00001)
AT occurs 5 years earlier than AU
AU reported 4 years earlier than AAT (assuming other factors are constant)
AU is significantly associated with nail involvement
ANALYSIS OF AGE OF ONSET IN REGISTRY PATIENTS
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Self-reported from First Tier (n = 10539)
Allergies all participants n= 4192 (40)
Allergies in AA (n=3519) (33)
Unaffected Relatives (n=418) (4)
Unaffected controls (n=252) (4)
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Rheumatoid Arthritis (all) 163 (15)
Rheumatoid Arthritis AA 122 (1)
Diabetes ALL 141 (13)
Insulin Dependent 57 (05)
Type II Diabetes 83 (08)
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
DNA for GWAS analysis
Petukhova L et al Genome wide Association Study in
Alopecia Areata Implicates both Innate and Adaptive
Immunity Nature Vol 466 July 1 2010113-7 2010
SERUM
Christiano and Petukhovandash Gluten antibodies biomarkers
Dr Thomas Waldmann ndash NIH ndash cytokine IL15 study
Dr Yehuda Shoenfeld ndash Sheba Medical Center Tel-Aviv University
Israel- autoimmunity with AA
Drs David Norris amp Li Zhang ndash University of Colorado Denver ndash
antibodies in AA to melanocytes
Dr Nazila Barahmani ndash University of Texas ndash MD Anderson Cancer
Center ndash Cytokine profiles
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
DATABASE
Dr Christiano - Columbia University
Dr Jennifer Sorrell - Columbia University
Dr Hordinskyndash University of Minnesota
Drs Gorbatenko-Roth and Prose - University of
Wisconsin-Stout (UW-Stout) and Duke University
Medical Center
Drs Derek Gordon Christiano amp Petukhova - Rutgers
University amp Columbia University
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
History of atopy or autoimmunity increases risk of alopecia areata J Am Acad Dermatol 2009 Oct 61(4)581-91 Epub 2009 Jul 16
Rodriguez T Duvic M Onset of alopecia areata after Epstein-Barr virus infectious mononucleosis J Am Acad Dermatol July 59(1) 137-139 2008
Barahmani N De Andrade M Slusser J Wei Q Hordinsky M Price V Christiano A Norris D Reveille J Duvic M Human leukocyte antigen Class II alleles are associated with risk of alopecia areata J Am Acad Dermatol Jan 128(1)240-3 2008
Ahmed A Barahmani N Duvic M Familial Alopecia Areata and Chronic Thrombocytopenia J Am Acad Dermatol May 58 (5 Suppl 1) S75-7 2008
Martinez-Mir A Zlotogorski A Gordon D Petukhova L Mo J Gilliam TC Londono D Haynes C Ott J Hordinsky M Nanova K Norris D Price V Duvic M and Christiano AM Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics Feb 80 316-328 2007
Barahmani N de Andrade M Slusser JP Zhang Q Duvic M Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata J Invest Dermatol 2006 Jan126(1)74-8
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Bi MY Curry J Duvic M Christiano A Hordinsky M Norris D Price V The Spectrum of Hair Loss in Patients with Mycosis Fungoides and Sezary Syndrome J Am AcadDermatol 2011 Jan 62(3)525-7
Petukhova L Duvic M Hordinsky M Norris D Price V Shimomura Y Kim H Lee A Wei V Chen WC Jahoda CA Amos C Gregersen PK Christiano AM Genomewide Association Study in Alopecia Areata Implicates both Innate and Adaptive Immunity Nature 2010 Jul 1466(7302)113-7
Rodriguez TA Fernandes KE Dresser KL Duvic M ldquoConcordance Rate of alopecia areata in identical twins supports both genetic and environmental factorsrdquo J Am Acad Dermatol 2010 Mar 62(3)525-7
Mukherjee N Morrell D Duvic M Stewart P Goldsmith L Attitudes of Dermatologists in the Southeastern United States Regarding Treatment of Alopecia Areata BioMed Central Dermatology 2009 Nov 12 911
Barahmani N Lopez A Babu D Hernandez M Donely SE Duvic M Serum Th1 Cytokine Levels are greater in Patients with alopecia areata regardless of severity or atopyrdquo Clinical Experimental Dermatology 2009 Oct 35(4) 409-416
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Petukhova L Christiano AM The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S16-S22 doi101038jidsymp20135
Kalabokes VD Berfeld SF Christiano AM Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S1-S4 doi101038jidsymp20131
Norris DA Summary of the Proceeding Three Alopecia Areata Research Summits What Past is Prologue Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S5-S9 doi101038jidsymp20132
Hordinsky MK Overview of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S13-S15 doi101038jidsymp20134
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Betz RC et al Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci Nature Communications 2015 Jan 22 65966 doi101038ncomms6966
Xing L et al Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nature Medicine 2014 Sep 20(9)1043-9 doi 101038nm3645 Epub 2014 Aug 17
Duvic M Christiano AM Hordinsky M Norris D Price V Amos CI The National Alopecia Areata Registry Journal of Investigative Dermatology Symposium Proceedings (2013) 16 S53 doi101038jidsymp201320
Shi Q Duvic M Osei JS Hordinsky MK Norris DA Price VH Amos CI Christiano AM Mendoza TR Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data J Journal of Investigative Dermatology Symposium Proceedings (2013) Dec 16(1)S49-50 doi 101038jidsymp201318
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Genes associated with alopecia areata are associated
with other autoimmune diseases including rheumatoid
arthritis type 1 diabetes and celiac disease ndash
autoimmune diseases with pre-existing treatments
Scalp biopsy biomarker study 130 profiling AA RNA
Discovery translates into to effective clinical trials and
development of drugs that specifically target the mechanism causing onset of alopecia areata
Example JakStat inhibitors
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
gt6000 AA are registered but DNA not collected ndash lack of access
Transfer of data and specimens to NAAFGSS
Samples to investigators who apply with IRB approved protocol
No approved therapy for a disease that affects 1-2 of the population
AA patients checked a box for desire to participate in clinical trials ndash 5 centers across US
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
Registry PIrsquos Angela Christiano
Maria Hordinsky
Vera Price
David Norris
NAAF Vicki Kalabokas
Dory Kranz
Abby Ellison
Jeanne Rappapart
Advisory Committee Alan Moshel Lowel Goldsmith Kent Stern
NIH ndash Carl Baker
MD Anderson Joyce Osei Chris Amos PhD Web base design epidemiology
