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Milan, 8 - 11 September 2019 University of Milan International Congress on Porphyrins and Porphyrias ICPP F ROM BENCH TO CARE SCIENTIFIC PROGRAM www.icpp2019.org

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Page 1: SCIENTIFIC PROGRAM ICPP International Congress · Paris HUPNVS, Laboratoire de Biochimie, Hôpital Beaujon, Clichy, FRANCE, 4 Université Pierre Marie Curie Laboratoire des Biomolécules,

Milan, 8 - 11 September 2019University of Milan

International Congress on Porphyrins and PorphyriasICPP

F r o m b e n c h t o c a r e

SCIENTIFIC PROGRAM

www.icpp2019.org

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17:30 - 19:15WELCOME CEREMONY

17:30 - 17:45OPENING REMARKSCHAIRS: M.D. Cappellini (Milan, Italy), P. Ventura (Modena, Italy)

17:45 - 18:15 EpNet PresentationSPEAKER: S. Sandberg (Bergen, Norway)

18:15 - 19:15Opening LectureFrom bench to care since 40 years, some facts and thinkingSPEAKER: J.C. Deybach (Paris, France)

19:30 - 21:00Welcome Reception

MONDAY, 9TH SEPTEMBER

08:45 - 10:301st SESSION: FOUNDAMENTALS OF HEMECHAIRS: M.D. Cappellini (Milan, Italy), S. Sandberg (Bergen, Norway)

08:45 - 09:15 Heme biosynthesis and catabolismSPEAKER: J. Phillips (Salt Lake City, USA)

09:15 - 09:45 Heme transporters and beyondSPEAKER: I. Hamza (Maryland, USA)

09:45 - 10:00Discussion

SUNDAY, 8TH SEPTEMBER

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10:00 - 10:15OC1THE HEME BIOSYNTHESIS - HEME EXPORT AXIS IS REQUIRED FOR THE MODULATION OF THE TRICARBOXYLIC ACID CYCLE V. FIORITO 1, F. DESTEFANIS 1, S. MARCHI 2,3, E. GAZZANO 4, S. TORRETTA 5, V. AUDRITO 6, P. PROVERO 1, E. MEDICO 4,7, D. CHIABRANDO 1, S. PETRILLO 1, P.E. PORPORATO 1, C. CANCELLIERE 7, A. BARDELLI 4,7, L. TRUSOLINO 4,7, S. DEAGLIO 6, F. ALTRUDA 1, C. RIGANTI 4, S. CARDACI 5, P. PINTON 2,8, E. TOLOSANO 1

1 Molecular Biotechnology Center (MBC), Department of Molecular Biotechnology and Health Sciences, University of Torino, Torino, ITALY, 2 Lab. for Technologies of Advanced Therapies, Dep. of Morphology, Surgery & Experimental Medicine, University of Ferrara, Ferrara, ITALY, 3 Department of Clinical and Molecular Sciences - Histology, Polytechnical University of Marche, Ancona, ITALY, 4 Department of Oncology, University of Torino, Torino, ITALY, 5 Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, ITALY, 6 Immunogenetics Unit, Department of Medical Sciences, University of Torino, Italian Institute for Genomic Medicine (IIGM), Torino, ITALY, 7 Candiolo Cancer Institute, FPO - IRCCS, Torino, ITALY, 8 Maria Cecilia Hospital, GVM Care & Research, Ravenna, ITALY

10:15 - 10:30OC2HEMOPEXIN AS REPRESENTATIVE FOR PROTEINS WITH HIS/TYR - BASED HEME - BINDING MOTIFS D. IMHOF 1, M. DETZEL 1, B.F. SYLLWASSCHY 1, M.T. HOPP 1

1 University of Bonn - Department of Pharmaceutical Biochemistry and Bioanalytics, Bonn, GERMANY

10:30 - 11:00Coffee break and Poster Viewing

11:00 - 12:452nd SESSION: IRON AND HEME REGULATIONCHAIRS: P. Meissner (Cape Town, South Africa), A. Piperno (Monza, Italy) 11:00 - 11:30 New insights in iron metabolism regulationSPEAKER: A. Pietrangelo (Modena, Italy)

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11:30 - 12:00 Effects of Iron supplementation in EPP and XLPSPEAKER: M. Balwani (New York, USA)

12:00 - 12:15Discussion

12:15 - 12:30OC3EXPRESSION OF DELTA - AMINOLEVULINIC ACID SYNTHASE 2 IN IRON DEPRIVED ERYTHROLEUKEMIC CELL LINE K562 MIMICS MRNA EXPRESSION PATTERNS FOUND IN BLOOD SAMPLES OF ERYTHROPOIETIC PROTOPORPHYRIA PATIENTS J. BARMAN - AKSÖZEN 1, F. HALLOY 2, P. IYER 2, D. SCHÜMPERLI 2, A.E. MINDER 3, J. HALL 2, E.I. MINDER 1, X. SCHNEIDER - YIN 1

1 Institute of Laboratory Medicine, Municipal Hospital Zurich, Zurich, SWITZERLAND, 2 Institute of Pharmaceutical Sciences, Department of Chemistry and Applied Biosciences, Federal Institute of Technology, Zurich, SWITZERLAND, 3 Division of Endocrinology, Department of Internal Medicine, Municipal Hospital Triemli, Zurich, SWITZERLAND

12:30 - 12:45OC4ERYTHROID PROGENITOR TARGETED GENE THERAPY USING BIFUNCTIONAL TFR1 LIGAND - PEPTIDES IN HUMAN ERYTHROPOIETIC PROTOPORPHYRIA A. MIRMIRAN 1, C. SCHMITT 2, T. LEFEVBRE 2, H. MANCEAU 3, R. DAHER 1, V. OUSTRIC 1, J. LACAPERE 4, B. MOULOUEL2, A. POLI 2, Z. KARIM 1, K. PEOCH 3, H. LANGLET 1, S. SIMONIN 2, J. DEYBACH 2, G. NICOLAS 1, L. GOUYA 2

1 Institut National de la Santé et de la Recherche Médicale U1149 Centre de Recherches sur lInflammation, Paris, FRANCE, 2 Assistance Publique - Hôpitaux de Paris Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, FRANCE, 3 Assistance Publique - Hôpitaux de Paris HUPNVS, Laboratoire de Biochimie, Hôpital Beaujon, Clichy, FRANCE, 4 Université Pierre Marie Curie Laboratoire des Biomolécules, CNRS, UMR 7203, Site Jussieu, Paris, FRANCE

12:45 - 14:00Lunch break and Poster Viewing

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14:00 - 16:003rd SESSION: BASIC AND EXPERIMENTAL PORPHYRIASCHAIRS: E. Di Pierro (Milan, Italy), J. Phillips (Salt Lake City, USA)

14:00 - 14:45 Update on Genetics of PorphyriasSPEAKER: R. Desnick (New York, USA)

14:45 - 15:15 Animal Models for PorphyriasSPEAKER: M. Yasuda (New York, USA)

15:15 - 15:30Discussion

15:30 - 15:45OC5MITOCHONDRIAL ALTERATIONS DUE TO PORPHYRINOGENIC AGENTS IN A MOUSE MODEL OF ACUTE INTERMITTENT PORPHYRIAR. J. ZUCCOLI 1, M MARTINEZ 2, S. F. RUSPINI 3, A. BATLLE 4, A. M. BUZALEH 5

1 CIPYP - UBA - CONICET, Buenos Aires, ARGENTINA, 2 University of Buenos Aires, Buenos Aires, ARGENTINA

15:45 - 16:00OC6SINGLE CELL TRANSCRIPTOMIC ANALYSIS OF HEPATOCYTES IN A MOUSE MODEL OF PORPHYRIA CUTANEA TARDA B. WANG 1, R. PATKAR 1, D. BURHAN 1, J. PHILLIPS 2

1 University of California San Francisco, San Francisco, USA, 2 University of Utah, Salt Lake City, USA

16:00 - 16:15Coffee break and Poster Viewing

16:15 - 18:15EPNET MEETINGCHAIR: S. Sandberg (Bergen, Norway)

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TUESDAY, 10TH SEPTEMBER

08:45 - 10:304th SESSION: ACUTE PORPHYRIASCHAIRS: K. Anderson (Galveston, USA), P. Harper (Stockholm, Sweden)

08:45 - 09:15Update on clinical aspects of acute porphyriasSPEAKER: R. Kauppinen (Helsinki, Finland)

09:15 - 09:30OC7ACUTE HEPATIC PORPHYRIA (AHP) DISEASE MANIFESTATIONS AND DAILY LIFE IMPACTS IN EXPLORE INTERNATIONAL, PROSPECTIVE, NATURAL HISTORY STUDY K. ANDERSON 1, P. VENTURA 2, M. BALWANI 3, D.M. BISSELL 4, D.C. REES 5, U. STÖLZEL 6, J.D. PHILLIPS 7, R. KAUPPINEN 8, J.G. LANGENDONK 9, R.J. DESNICK 3, J.C. DEYBACH 10, H.L. BONKOVSKY 11, C. PARKER 7, H. NAIK 3, M. BADMINTON 12, P. STEIN 5, E.I. MINDER 13, J. WINDYGA 14, P. MARTASEK 15, M.D. CAPPELLINI 16, E. SARDH 17, P. HARPER 17, S. SANDBERG 18, A. AARSAND 18, F. ALEGRE 19, A. IVANOVA 20, N. TALBI 10, J.J. KO 21, T. LIN 21, C. PENZ 21, A. SIMON 21, L. GOUYA 10

1 University of Texas, Medical Branch Galveston, Galveston, USA, 2 Università degli Studi di Modena e Reggio Emilia, ITALY, 3 Mt. Sinai Icahn School of Medicine, New York, USA, 4 University of California, San Francisco, California, San Francisco, USA, 5 King’s College Hospital, United Kingdom, UK, 6 Klinikum Chemnitz, Chemnitz, GERMANY, 7 University of Utah, Salt Lake City, Utah, USA, 8 University Hospital of Helsinki, Helsinki, FINLAND, 9 Erasmus MC, University Medical Center Rotterdam, Rotterdam, NETHERLANDS, 10 Centre Français des Porphyries, Colombes, FRANCE, 11 Forest University NC Baptist Medical Center, North Carolina, Winston - Salem, USA, 12 University Hospital of Wales, Wales, UK, 13 Stadtspital Triemli, Zentrallabor, SWITZERLAND, 14 Instytut Hematologii i Transfuzjologii, Warsaw, POLAND, 15 Univerzity Karlovy v Praze, Prague, CZECH REPUBLIC, 16 University of Milan, Milan, ITALY, 17 Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, SWEDEN, 18 Norwegian Porphyria Centre [NAPOS], Bergen, NORWAY, 19 Clinica Universidad de Navarra, Pamplona, SPAIN, 20 St. Ivan Rilski University Hospital, Sofia, BULGARIA, 21 Alnylam Pharmaceuticals, Cambridge, Massachusetts, USA

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09:30 - 09:45OC8LONG-TERM DISABILITY AND MORTALITY IN ACUTE HEPATIC PORPHYRIA: A REGISTRY-BASED NATIONWIDE COHORT STUDY C. BARAVELLI 1, A.A. AARSAND 1, 3, S. SANDBERG 1,2,3, M.C. TOLLÅNES 3

1 Norwegian Porphyria Centre (NAPOS), Haukeland University Hospital, Bergen, NORWAY, 2 Department of Global Public Health and Primary Care, University of Bergen (UiB), Bergen, NORWAY, 3 Norwegian Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconess Hospital, Bergen, NORWAY

09:45 - 10:00Discussion

10:00 - 10:15 Invited Talk - European Porphryia Registry: State of Art SPEAKER: A. Aarsand (Bergen, Norway)

10:15 - 10:30 OC9HEPATOCELLULAR CARCINOMA IN THE ACUTE HEPATIC PORPHYRIAS IN THE UNITED STATES B. SABERI 1, H. NAIK 2, J. OVERBEY 3, A. ERWIN 4, K. ANDERSON 5, M. BISSELL 6, H. BONKOVSKY 7, J. PHILLIPS 8, B. WANG 6, A. SINGAL 9, B. MCGUIRE 9, R. DESNICK 2, M. BALWANI 2

1 Icahn School of Medicine at Mount Sinai, Division of Liver Diseases, New York, USA, 2 Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, New York, USA, 3 Icahn School of Medicine at Mount Sinai, Department of Population Health Science and Policy, New York, USA, 4 Cleveland Clinic, Genomic Medicine Institute, Cleveland, USA, 5 University of Texas Medical Branch, Department of Preventive Medicine and Community Health, Galveston, USA, 6 University of California San Francisco, Department of Medicine, San Francisco, USA, 7 Wake Forest NC Baptist Medical Center, Winston - Salem, USA, 8 University of Utah, Department of Internal Medicine, Salt Lake City, USA, 9 University of Alabama, Department of Medicine, Birmingham, USA

10:30 - 11:00Coffee break and Poster Viewing

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11:00 - 13:005th SESSION: TREATMENT OF ACUTE PORPHYRIASCHAIRS: R. Desnick (New York, USA), P. Ventura (Modena, Italy)

11:00 - 11:30Alternative molecular approachesSPEAKER: A. Fontanellas (Pamplona, Spain)

11:30 - 12:00ENVISION, A PHASE 3 STUDY OF SAFETY AND EFFICACY OF GIVOSIRAN, AN INVESTIGATIONAL RNAI THERAPEUTIC, IN ACUTE HEPATIC PORPHYRIA PATIENTS SPEAKERS: L. Gouya (Paris, France), E. Sardh (Stockholm, Sweden)

12:00 - 12:15OC10A DRUG-DRUG INTERACTION STUDY INVESTIGATING THE EFFECT OF GIVOSIRAN ON ACTIVITY OF FIVE DRUG METABOLIZING CYP450 ENZYMES IN ACUTE INTERMITTENT PORPHYRIA (AIP) SUBJECTS WHO ARE CHRONIC HIGH EXCRETERS D. VASSILIOU 1, E. SRADH 1, P. HARPER 1, N. NAJAFIAN 2, A. SIMON 2, A. BURKE 2, J. KIM 2, P. GARG 2, G. ROBBIE 2, S. AGARWAL 2

1 Porphyria Centre Sweden, Karolinska University Hospital, Karolinska Institutet, Stockholm, SWEDEN, 2 Alnylam Pharmaceuticals, Cambridge, USA

12:15 - 12:30Discussion

12:30 - 12:45OC11EFFECT OF A HIGH-CARBOHYDRATE DIET ON THE GLYCEMIC AND LIPIDIC PROFILE IN AN ARGENTINE POPULATION WITH ACUTE INTERMITTENT PORPHYRIA A.M. BUZALEH 1, S.M. MORA 1, L.M. OLIVERI 1, N. MEDINA2, M.L. CALCAGNO 3, V.E. PARERA 1, M.V. ROSSETTI 1, E.N. GEREZ 1

1 Centro de Investigaciones Sobre Porfirinas y Porfirias (CIPYP), Ciudad Autónoma de Buenos Aires, Buenos Aires, ARGENTINA, 2 Laboratorio de Neurogenética, Hospital General de Agudos José María Ramos Mejía, Ciudad Autònoma de Buenos Aires, Buenos Aires, ARGENTINA, 3 Cátedra de Matemática, Facultad de Farmacia y Bioquímica, UBA., Ciudad Autónoma de Buenos Aires, Buenos Aires, ARGENTINA

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12:45 - 13:00OC12LIVER TRANSPLANTATION FOR ACUTE HEPATIC PORPHYRIA IN EUROPE M. LISSING 1, D. VASSILIOU 2, J. LANGENDONK 3, P. VENTURA 4, G. NOVAK 5, S. WAHLIN 1

1 Karolinska University Hospital, Dept of upper GI diseases, Stockholm, SWEDEN, 2 Karolinska University Hospital, Department of Endocrinology and Metabolism, Porphyria Centre Sweden, CMMS, Stockholm, SWEDEN, 3 Erasmus University Medical Center, Center for Lysosomal and Metabolic Diseases, Rotterdam, THE NETHERLANDS, 4 University Hospital of Modena, Internal Medicine Unit, Modena, ITALY, 5 Karolinska University Hospital, Dept of Transplantation Surgery, Stockholm, SWEDEN

13:00 - 14:00Lunch break and Poster Viewing

14:00 - 15:456th SESSION: CUTANEOUS PORPHYRIASCHAIRS: M. Balwani (New York, USA), J.A. Frank (Gottingen, Germany)

14:00 - 14:30 EPP: from bench to bedsideSPEAKER: J. Langendonk (Rotterdam, The Netherlands)

14:30 - 15:00 New Insights in the treatment of CPESPEAKER: O. Millet (Derio, Spain)

15:00 - 15:15Discussion

15:15 - 15:30OC13AMINOLEVULINIC ACID SYNTHASE 2 (ALAS2) INHIBITION TO TREAT ERYTHROPORPHYRIAS S. JIN1, B. CHAN1, M. MCMAY1, S. RONSEAUX1, M. WAN2, D. PIRMAN1, P. LIU1, B. SHOOK1, Z. SUI1, R. BUCKLEY1, G. WALKUP1, L. DANG1, D. ZHU1, Y. CHEN1, G. WHISSEL3, C. MAHONEY1, G. SMOLEN4, P. MORGAN1, C. COTTER1, V. DE JESUS1, S. NEWHOUSE1, G. DE RIENZO1, J. MURTIE1, Q. LIN5, X. ZHANG5, H. MA5, S.S.M. SU6, S. BILLER1

1Agios Pharmaceuticals, Cambridge, USA, 2Pfizer Inc, Cambridge, USA, 3CAMP4 Therapeutics, Cambridge, USA, 4Celsius Therapeutics, Cambridge, USA, 5WuXi AppTec Co., Ltd, Shanghai, CHINA, 6Decibel Therapeutics, Boston, USA

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15:30 - 15:45OC14ON LONG-TERM AFAMELANOTIDE TREATMENT SWISS RESIDENTS WITH ERYTHROPOIETIC PROTOPORPHYRIA (EPP) SHOWED SIGNIFICANTLY INCREASED LIGHT TOLERANCE AS WELL AS DECREASED PROTOPORPHYRIN AND LIVER ENZYMES A. MINDER 1, X. SCHNEIDER - YIN 2, M. NYDEGGER 3, H. ZULEWSKI 1, J. BARMAN - AKSÖZEN 21 Stadtspital Triemli, Department for Endocrinology, Diabetology, Porphyria, Zurich, SWITZERLAND, 2 Stadtspital Triemli, Institute for Laboratory Medicine, Zurich, SWITZERLAND, 3 Stadtspital Triemli, Institute for Anaesthesia and Intensive Care, Zurich, SWITZERLAND

15:45 - 16:00Coffee break and Poster Viewing

16:00 - 18:007th SESSION: REAL LIFE-GUIDED CLINICAL CONUNDRUMS IN PORPHYRIASA Clinical Case expert - guide Session from real-life

16:00 - 16:05Introduction and plan for sessionSPEAKER: P. Meissner (South Africa)

16:05 - 16:25OC15CONONDRUM 1. MANAGING CHRONIC PAIN IN ACUTE PORPHRIACHAIR: R. Hift (South Africa)

OPIOID DEPENDENCE WITH SUCCESSFUL TRANSITION TO SUBOXONE IN A YOUNG WOMAN WITH HEREDITARY COPROPORPHYRIAC. TOWNS 1, H. Mee S. 1, McBride 2

1 Wellington Hospital and University of Otago, Wellington, New Zealand, 2 Addiction Services, Capital and Coast District Health Board, Wellington, New Zealand

16:25 - 16:45OC16CONONDRUM 2. HAEM ARIGINATE: FRIEND OR FOECHAIR: M. Badminton (Cardiff, UK)

RE-EVALUATION OF THE RISKS OF LONG-TERM HEMIN FOR RECURRENT ACUTEINTERMITTENT PORPHYRIA.J. TO-FIGUERAS, E. . TITOS, R. FLORES-COSTA, C. BADENAS, P. AGUILERAHOSPITAL CLINIC. UNIVERSITY OF BARCELONA, BARCELONA, SPAIN

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16:45 - 17:05OC17CONONDRUM 3. MECHANISM AND TREATMENT OF HYPONATRAEMIA IN ACUTE ATTACKCHAIR: R. Hift (South Africa)

FIRST PRESENTATION OF AN ACUTE PORPHYRIC ATTACK IN A NEWLY DIAGNOSED HIV POSITIVE WOMANM.W. SONDERUP, C. SPEARMAN, B. DAVIDSON, G. ABDULLAH, P. MEISSNERUniversity of Cape Town Division of Hepatology and Lennox Eales Porphyria Laboratories, Cape Town, South Africa

17:05 - 17:25OC18CONONDRUM 4. HOW SHOULD WE BE TESTING FOR PORPHOBILINOGEN IN THE ACUTE SETTING?CHAIR: P. Meissner (South Africa)

NEED FOR A RAPID, SENSITIVE AND ROBUST ALA AND PBG MEASUREMENT IN ROUTINE AND EMERGENCY PRACTICE : IS LC-MS UP TO THE JOB?T. LEFEBVRE, N. DESSENDIER, C. SCHMITT, A. . POLI, N. TALBI, J. DEYBACH, H. PUY, L. GOUYALouis Mourier Hospital APHP- French Center of Porphyria CRMR, Colombes, France

17:25 - 17:45OC19CONONDRUM 5. PATHOGENIC OR BENIGN MUTATIONS – WHAT DOES IT MEAN?CHAIR: M. Badminton (Cardiff, UK)

VARIANT HMBS: C.674G>A, P.(ARG225GLN): TRULY BENIGN OR POTENTIALLY PATHOGENIC?S. Whatley 1, P. Stein 2, Y. Floderus 3, P. Harper 3, L. Nashef 2, S. Sardiwal 2, J. Wolf 4, M. Badminton 41 Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK, 2 King’s College Hospital NHS Foundation Trust, London, UK, 3 Porphyria Centre Sweden, Karolinska University Hospital, Stockholm, Sweden, 4 Department of Medical Biochemistry, University Hospital of Wales, Cardiff, UK

17:45 - 18:00Discussion

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WEDNESDAY, 11TH SEPTEMBER

08:45 - 10:308th SESSION: DEFINITION OF ACUTE PORPHYRIC ATTACKCHAIR: M.D. Cappellini (Milan, Italy)

08:45 - 09:15 Survey results presentationSPEAKER: P. Ventura (Modena, Italy)

09:15 - 10:30 Round table discussionCHAIRS: K. Anderson (Galveston, USA), M. Balwani (New York, USA), L. Gouya (Paris, France), R. Kauppinen (Helsinki, Finland), P. Meissner (Cape Town, South Africa), D. Rees (London, UK), E. Sardh (Stockholm, Sweden), N. Talbi (Colombes, France), J. To-Figueras (Barcelona, Spain), P. Wilson (Rotterdam, The Netherlands)

10:30 - 11:00Coffee break

11:00 - 12:309th SESSION: MISCELLANEOUSCHAIRS: P. Martasek (Prague, Czech Republic), E.I. Minder (Zurich, Switzerland)

11:00 - 11:30Assessment and management of Pain in Acute PorphyriasSPEAKER: E. Pischik (St. Petersburg, Russia)

11:30 - 11:45OC20TIME-TO-PRODROME AS AN ENDPOINT FOR ASSESSING ERYTHROPOIETIC PROTOPORPHYRIA TREATMENTSD. WENSINK1, J.G. LANGENDONK1, M. BALWANI2, J.R. OVERBEY3, E.J.E. VAN BROEKHOVEN1, M.A.E.M. WAGENMAKERS1, K. WHEEDEN4, H. NAIK2, R.J. DESNICK2

1 Erasmus MC University Medical Center - Department of Internal Medicine, Rotterdam, THE NETHERLANDS, 2 Icahn School of Medicine at Mount Sinai - Department of Genetics and Genomic Sciences, New York, USA, 3 Icahn School of Medicine at Mount Sinai - Department of Population Health Science and Policy, New York, USA, 4 American Porphyria Foundation, Bethesda, USA

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11:45 - 12:00OC21DIET,  BIOCHEMICAL BIOMARKERS AND STRESS IN ACUTE INTERMITTENT PORPHYRIAE. STORJORD 1, J.A. DAHL 1, A. LANDSEM 2,3, J.K. LUDVIKSEN 3, M.B. KARLSEN 4,5, B.O. KARLSEN 3, O. BREKKE 1,2

1 Department of Laboratory Medicine, Nordland Hospital Trust,, Bodoe, NORWAY, 2 Institute of Clinical Medicine, UiT The Arctic University of Norway, Tromsoe, NORWAY, 3 Research Laboratory, Nordland Hospital Trust, Bodoe, NORWAY, 4 Regional Center for Eating Disorders, Nordland Hospital Trust, Bodoe, NORWAY, 5 Unit for Health Promotion and Prevention, Meløy Municipality, Nordland, Meløy, NORWAY

12:00 - 12:15OC22EVALUATING THE PROMIS SCALES FOR QUALITY OF LIFE IN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA H. NAIK 1, J. OVERBEY 1, M. BALWANI 1, K. ANDERSON 2, D. BISSELL 3, H. BONKOVSKY 4, J. PHILLIPS 5, B. WANG 3, B. MCGUIRE 6, S. KEEL 7, C. LEVY 8, A. ERWIN 9, R. DESNICK 1

1 Icahn School of Medicine at Mount Sinai, New York, USA, 2 University of Texas Medical Branch, Galveston, USA, 3 University of California San Francisco, San Francisco, USA, 4 Wake Forest University, Winston - Salem, USA, 5 University of Utah, Salt Lake City, USA, 6 University of Alabama at Birmingham, Birmingham, USA, 7 University of Washington, Seattle, USA, 8 University of Miami, Miami, USA, 9 Cleveland Clinic, Cleveland, USA

12:15 - 12:30Discussion

12:30 - 12:45Award for best poster and oral communication

12:45 - 13:00CLOSING REMARKSSPEAKERS: M.D. Cappellini (Milan, Italy), P. Ventura (Modena, Italy)

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Aarsand Aasne Karine (Bergen, Norway)Anderson Karl (Texas, USA)Badminton Michael (Cardiff, UK)Balwani Manisha (New York, USA)Cappellini Maria Domenica (Milan, Italy)Desnick Robert (New York, USA)Deybach Jean Charles (Paris, France)Di Pierro Elena (Milan, Italy)Fontanellas Antonio (Pamplona, Spagna)Frank Jorge Alberto (Bishop Auckland, UK)Gouya Laurent (Paris, France)Hamza Iqbal (Maryland, USA)Harper Pauline (Stockholm, Sweden)Hift Richard (Durban, South Africa)Kauppinen Raili (Helsinki, Finland)Langendonk Janneke (Rotterdam, The Netherlands)Martasek Pavel (Prague, Czech Republic)Meissner Peter (Cape Town, South Africa)Millet Oscar (Derio, Spain)Minder Elisabeth (Zurich, Switzerland)Phillips John (Salt Lake, USA)Pietrangelo Antonello (Modena, Italy)Piperno Alberto (Monza, Italy)Pischik Elena (St. Petersburg, Russia)Rees David (London, UK)Sandberg Sverre (Bergen, Norway)Sardh Eliane (Stockholm, Sweden)Talbi Neila (Colombes, France)To-Figueras Jordi (Barcelona, Spain)Ventura Paolo (Modena, Italy)Wilson Paul (Rotterdam, The Netherlands)Yasuda Makiko (New York, USA)

FACULTY

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