presentations 11 to 20
TRANSCRIPT
Karolinska Undiagnosed diseases program Rare diseases and syndrome diagnos3cs
Syndromes and cancer suscep3bility
Familial childhood cancers
Mosaicism
Skill: Well func3oning mul3disciplinary team for syndrome
diagnos3cs
Project idea: Hun3ng cancer genes in rare syndromes and familial
cases to iden3fy mechanisms and iden3fy therapeu3c targets
Examples
1a
1b
2a
2b 4
3
We seek collaborators!
Please contact us!
All children with syndromes and cancer
All cases with more than one case of childhood
cancer in the family
Karolinska Bone programSkeletal dysplasias
Short and tall stature
Osteoporosis and osteoarthritis
Other metabolic bone diseases
Skill: Well functioning multidisciplinary team for diagnostics, treatment and
frontline translational research
Project idea: To identify and study diseases with a major effect on the skeleton
and cartilage by studying individuals and families with isolated or syndromatic
skeletal disorders, childhood‐onset osteoporosis or abnormal growth
Karolinska Bone program
We seek collaborators working on bone diseases
and can help with the investigations of unknown
skeletal dysplasias and other
metabolic bone diseases!
Lars Sävendahl
Paediatric Endocrinology
Karolinska Institutet
Email:[email protected]
Phone: +46 (0)8 5177 2369
WGS karyotyping project Rare disease and syndrome diagnos6cs, Structural genomic
varia6on, Func6onal studies in zebrafish
Project idea: Gene and mechanism discovery
through next genera6on sequencing of structural
chromosomal rearrangements.
WGS karyotyping project ‐ examples
chr16
der16
der22
16 22
A C
B
D
chr16 chr22
chr22 chr16
RP11-350D02
1. Balanced transloca/on
2. Intragenic dele/on in a fetus with encephalocele:
We seek collaborators!
Interes/ng cases with chromosomal aberra/ons
include:
1. Balanced transloca/on and inversion carriers with phenotype informa/on
2. Complex chromosomal rearrangements (>3
breakpoints)
3. … and other interes/ng CNVs
Anna Lindstrand
Clinical Gene6cs
Karolinska Ins6tutet
E‐mail: [email protected]
Phone: +46‐70‐5436593
Hacettepe University
Medical Faculty
Istanbul University
Cerrahpaşa Medical Faculty
Çapa Medical Faculty
Istanbul Technical University
Molecular Cell Biology-Biotechnology
and Genetics Research Center
Rare Neurodegenerative Diseases
Hereditary Spastic Paraplegia
Hereditary Spinocerebellar Ataxia
Nuclear envelopathies
Capabilities:
WES Analysis
iPSC model
CRISPR/Cas9 Genome editing
Zebra fish model
MRI - Brain Image Processing and Modelling
Seeking partners:
In silico modelling (Pathway analysis)
iPSC differentiation
Mouse Models
Prof. Dr. Arzu Karabay
Istanbul Technical University
Molecular Biology-Biotechnology and Genetics Research Center
90-533-5172831
Ankara University Department of Ophthalmology
The leading provider of eye health services
A qualified center for ophthalmic research and education
Topics of interest
Uveitis
Behcet disease
Pediatric eye diseases
TYPE OF PARTNER SOUGHT
• Teams seeking research partners with
expertise in clinical and preclinical research
related to uveitis or Behcet disease.
• Projects investigating new therapies for either
uveitides or autoimmun disorders/systemic
vasculitides.
TYPE OF PARTNER SOUGHT
• Teams seeking research partners with
expertise in clinical and preclinical research
related to pediatric eye diseases.
• Projects investigating new diagnostic
modalities and therapies for pediatric eye
diseases
Contact details
Nilüfer Yalçındağ [email protected]
Huban Atilla [email protected]
Department of Ophthalmology
Ankara University Medical Faculty
Ankara, Turkey
Systemic sclerosis (scleroderma)
systemic sclerosis
New surgical treatment for face and hand changes
Amin Kalaaji, MD, PhD Oslo plastikkirurgi clinic
Oslo www.osloplastikkirurgi.no
[email protected] M: +4792062144
Exchange experience with institutes/ departments/ companies:
systemic sclerosis: basic and clinical research
Fat grafting: basic and clinical research and its potential for treatment
We present a new method of treating skin and connective tissue changes in face and hands using fat grafting
The method of preparing fat through new devices to be grafted is under development
What do we want? Systemic sclerosis and fat grafting
Facts
1% of diabetes incidence*2.5 million comparing to 250. (Norway 500 cases)
50000 new case every year worlwide, higher in colder climates.
Women 4 times more, age at 30-60. Multisystem disease characterized by
widespread vascular dysfunction and progressive fibrosis of the skin and internal organs
Diagnosis is based on characteristic clinical findings, and specific serologic abnormalities
Symptoms
Most common: •fatigue, vision problems, tingling and numbness, vertigo and dizziness, muscle weakness and spasms •problems with balance and coordination Less common: •speech and swallowing problems, •cognitive dysfunction, difficulty with walking •bladder and bowel dysfunction, sexual dysfunction, mood swings, depression
No cure
Medications are to lessen frequency of relapses and slow the progression
New Application of a relatively known technique
Tried in France, Marseille by dr Magalon with success in the face and under progress for the hands
Should be done regularly
An out patient’s procedure which increase QoL
Treatment of skin and subcutaneous tissue changes
We can certainly help these patients
More research is needed
More cooperation between countries is needed
More long term and multicenter studies are needed
Conclusion
TAKK THANK YOU
Clinical trial in Rare Diseases
Coordinated by Pr. Olivier Blin
Cécile COLOMBAN, project manager
Contact: [email protected]
+ 33 (0)4 91 32 41 62
www.orphan-dev.org
An unique French national system
• Regulatory affairs EMA/FDA
• Set-up, coordination of
Rare Diseases Clinical trials
• Optimization of patients
recruitment in clinical trials
3
� Scientific and Regulatory aspects• Orphan Drug Designation
• Protocol Assistance
� Clinical Trials• Protocol and annexes conception, design and writing
• Recruitment strategy (call center)
• Center selection
• Regulatory submission
� Training: patients and health professionals
� Financing• H2020 partner (offer skills / and look for a consortium)
Drug development for Orphan Drugs
H2020
SC1-PM-08-2017
Eligibility criteria
OrphanDev: a validated experience
� Answer to more than 80 requests during last 5 years
OrphanDev today:
7 clinical trials (recruiting)
• 2 European academic projects
• 2 national academic projects
• 3 industry international trials
Orphan Drug Designations (up to 20 cases)
13 ODD already granted by EC in:
Prader-Willi syndrome
Fragile X syndrome
Xeroderma Pigmentosum
Spinal Cord Injury
Scleroderma
Progressive Supranuclear Palsy
Hereditary Haemorrhagic Telangiectasia
Charcot-Marie-Tooth disease
Huntington Disease
Glioma
WHIM Syndrome (2ODD)
Langerhans Cell Histiocytosis
Protocol assistance
Protocol assistance
PHRC funding
Transfer to SME
Transfer to SME
Protocol assistance planned
Protocol assistance
PHRC funding
Protocol assistance planned
PHRC funding
PM-03 Diagnostic characterisation of
rare diseases
Looking for partners:
Clinical experts in rare disease: unnamed disorder or
with unknown molecular basis.
2
LEITAT Technological Center in brief…
• LEITAT is a private and non-profit research organisation, recognised by the
Catalan Government (TECNIO) and by the Spanish Ministry of Science and
Innovation.
• Multisectorial Solutions: BIOMED, DESING·DEVICES·ENGINEERING,
HUMAN&ENVIRONMENT·HEALTH&SAFETY, ADVANCED MATERIALS,
ENVIRONMET&BIOTECHNOLOGIES, FAST MOVING CONSUMER GOODS.
•EU presence: 70 EU Projects on-going, EIT HEALTH Associate Member,
EARTO Member, ETPN Member.
3
SOME PROJECTS
FP7.NMP.2007: Integration of novel NANOparticle based technology for THERapeutics and
diagnosis of different types of cancer. GA # 6 -2
FP7.NMP.2011: Research and innovation for advanced multifunctional ceramic materials. GA # 280575
EIT HEALTH: Healthy Living and Active Ageing
H2020.PHC.2015: Glass-Laser Multiplexed Sensor. GA # 6
ENIAC.2013: Devices for NeuroControl and NeuroRehabilitation GA # 324257
H2020.PHC.2016: Developing new therapies for Batten disease. GA # 666
4
PM-03 Diagnostic characterisation of rare diseases
Disease
translational
models
Translational
organisations/
Regulators
Technological
Partners
Bioinformatics
Clinical Partners
RD Diagnostic
characterisation
Title of presentation + the topic(s) of interest
AUR-1001
FIRST-IN-CLASS TREATMENT
FOR ANTI-PHOSPHOLIPID SYNDROME
ANTIPHOSPHOLIPID SYNDROME (APS)
VASCULAR OBSTETRIC CATASTROPHIC PEDIATRIC
MAIN CLINICAL MANIFESTATIONS
ANTI PHOSPHOLIPID SYNDROME (Hughes Syndrome)
AUTOIMMUNE DISEASE
DEVELOPMENT OF THROMBI
HIGHLY INVALIDATING AND DEADLY
NO SPECIFIC TREATMENT AVAILABLE
APS EPIDEMIOLOGY
General population aPL
AP
S
Elderly Women African Americans,
Hispanics
Other diseases:
Lupus
60% 27%
13%
APS
APS HIGH PREVALENCE GROUPS
General population
(US, EU, JPN)
Asymptomatic people
with aPL
Number of APS
patients
900 M 9-45 M 450 K
EPIDEMIOLOGY OF ANTI PHOSPHOLIPID SYNDROME
EXPERIENCED TEAM
Antonio Guglietta MD, PhD, MBA. Ferdinando Nicoletti MD, PhD. Giann Garotta PhD. Olav Flaten MD, PhD.
AURA Biopharm AS was founded in 2016 by a team of scientists
and drug developers with many years experience in academia
and major pharmaceutical companies and a proven track record
of success in drug development.
For further information: Olav Flaten MD, PhD
Chairman and acting CEO
Email: [email protected]
Tel. +47 909 12 340
www.aurabiopharm.com
has the ambition to develop a
Systematic & Patient-based
Drug Selection Process
for Orphan Diseases
How?
Each patient entering the care pathway will
benefit from a systematic screening of the
complete pharmacopeia on his cells
Why?
Drug Repurposing is a fast and de-risked way to
answer the high medical need.
Our running technology
• Large scope : disease mechanism at play in patient cells
• ideally blood cells, skin, muscle & tumor biopsies.
• Functional testing based on validated diagnostic biomarkers
• comparable to what is done for diagnosis
• high correlation with the clinic.
• Fast translation to the clinic with already marketed drug.
Pharmacogram
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C C C
D D D
E E E
F F F
G G G
H H H
I I I
J J J
K K K
L L L
M M M
N N N
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C C C
D D D
E E E
F F F
G G G
H H H
I I I
J J J
K K K
L L L
M M M
N N N
Cells Functional testing
Drug
collection
Patient
Drug that correct
the diseased function
Clinical evaluation
PARTNERS Technology
• PARTNERS mastering « screenable » assays on patient cells (inspired from diagnosis for example).
• Objective: to enlarge the scope of the screening technology.
Clinic
• PARTNERS with clinical resources
• Objective: to facilitate the translation into clinic and manage clinical trials
Regulatory
• PARTNERS with good knowledge of EU healthcare rules and constraints
• Objective: to mark out the regulatory path of this innovative drug repurposing process
Medico-economic
• PARTNERS with Health Economics skills
• Objective: able to measure the rendered service to the society.
