Genetic diseases and molecular genetics

Christophe Legendre 9 5 23 27 31 38 41 47 50 55 62 David Cohen 8 18 22 26 30 37 40 46 49 54 61 Yahsou Delmas 7 17 21 25 24 36 39 48 53 60 Thorsten Feldkamp 14 13 24 29 35 45 52 59 Denis Fouque 13 7 28 34 44 51 58 Richard Furman 12 33 43 57 63 Osama Gaber 11 19 32 42 56 Larry Greenbaum 16 20 Timothy Goodship 15 Hermann Haller 10 Maria Herthelius 5 Maryvonne Hourmant 6 Christoph Licht 3 Bruno Moulin 4 Neil Sheerin 15 Antonella Trivelli 1 Camille L. Bedrosian 2 Chantal Loirat 0 0 Assistance Publique-Hpitaux de Paris, Hpital Robert Debr Paris France 1 Istituto G. Gaslini Genova Italy 2 Alexion Pharmaceuticals Inc., Cheshire CT United States 3 Assistance Publique-Hpitaux de Paris, Hpital Robert Debr Paris France 4 Hpitaux Universitaires de Strasbourg , Nouvel Hpital Civil Strasbourg France 5 Newcastle University Newcastle upon Tyne United Kingdom 6 Alexion Pharmaceuticals Cheshire CT United States 7 Columbia University Medical Center New York NY United States 8 Fort Wayne Medical Oncology and Hematology Fort Wayne IN United States 9 Universit Paris Descartes , Hpital Necker Paris France 10 University Hospital, Franois Rabelais University Tours France 11 Emory University School of Medicine Atlanta GA United States 12 Methodist Hospital Houston TX United States 13 Weill Cornell Medical College New York NY United States 14 CHU Pellegrin Bordeaux France 15 University of Innsbruck Innsbruck Austria 16 CHU Hotel Dieu-Nantes Nantes France 17 Emory University Atlanta GA United States 18 Universit Paris Descartes & Hpital Necker Paris France 19 Alexion Pharmaceuticals Inc. Cheshire CT United States 20 Hpital Debr Paris France 21 University of Heidelberg Mannheim Germany 22 The Cyprus Institute of Neurology and Genetics Nicosia Cyprus 23 University of Cyprus Nicosia Cyprus 24 Nicosia General Hospital Nicosia Cyprus 25 Department of Nephrology and Dialysis Academic Teaching Hospital Feldkirch Feldkirch Vorarlberg Austria 26 Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism Churchill Hospital, University of Oxford Headington Oxford United Kingdom 27 Renal Research Institute New York NY United States 28 Division of Medical Genetics McGill University Health Centre Montreal QC Canada 29 VIVIT Vorarlberg Institute for Vascular Investigation and Treatment Academic Teaching Hospital Feldkirch Feldkirch Vorarlberg Austria 30 Molecular Medicine Research Center Nicosia Cyprus 31 Limassol General Hospital Limassol Cyprus 32 Paphos General Hospital Paphos Cyprus 33 Evangelismos Hospital Paphos Cyprus 34 Larnaca General Hospital Larnaca Cyprus 35 Hippokrateon Hospital Nicosia Cyprus 36 Harvard School of Dental Medicine Boston MA United States 37 Nephrology Beth Israel Deaconess Medical Center Boston MA United States 38 Nephrology Brigham and Women's Hospital Boston MA United States 39 IST Austria Klosterneuburg Austria 40 European Bioinformatics Institute Cambridge United Kingdom 41 Medicine, Division of Nephrology and Dialysis Medical University of Vienna Vienna Austria 42 Lincoln's Inn Fields Laboratories Cancer Research UK., London Research Institute London United Kingdom 43 Haematology and Oncology Elisabethinen Hospital Linz Austria 44 Physiology Medical University of Innsbruck Innsbruck Austria 45 Center for Integrative Bioinformatics Vienna, Max F. Perutz Laboratories Medical University of Vienna Vienna Austria 46 Department of Nephrology First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague Prague Czech Republic 47 Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague Prague Czech Republic 48 Pediatric Nephrology Pamukkale University School of Medicine Denizli Turkey 49 GenXPro GmbH Frankfurt Germany 50 Internal Medicine IV - Nephrology and Hypertension Saarland University Medical Center Homburg Germany 51 Molecular Genetics Ege University School of Medicine Izmir Turkey 52 Pediatric Nephrology Ege University School of Medicine Izmir Turkey 53 Dalhousie University Halifax NS Canada 54 Shire HGT Eysins Switzerland 55 Belcolle Hospital Viterbo Italy 56 FGM, Center of Internal Medicine Mllheim Germany 57 Hospital of Bellvitge IDIBELL Barcelona Spain 58 Medical University Vienna Austria 59 Royal Melbourne Hospital & University of Melbourne Victoria Australia 60 Kartal Ltfi Krdar Education 61 Pediatrics Gazi University Faculty of Medicine Ankara Turkey 62 Pediatrics Ankara Education and Research Hospital Ankara Turkey 63 Fabry Center General Hospital Slovenj Gradec Slovenia - EFFICACY OF ECULIZUMAB IN ATYPICAL HEMOLYTIC UREMIC SYNDROME (aHUS) PATIENTS WITH OR WITHOUT PRIOR TRANSPLANT Introduction and Aims: Post-transplant aHUS recurrence leads to graft failure within 1 yr (year) in 60% of patients ( pts).1 Case reports suggest that eculizumab (Ecu) rescues ongoing complement-mediated thrombotic microangiopathy (TMA) and prevents resulting graft loss in pts with post-transplant aHUS recurrence.2 Methods: Ecu efficacy and safety were evaluated in 2 open-label, single-arm, 26-week phase 2 trials with long-term extensions in aHUS pts age 12 yrs. Outcomes in non-transplant (NTP) and prior transplant (TP) aHUS pts with progressing TMA or long disease duration and 2 yrs of ongoing Ecu treatment were analyzed. Results: Ecu improved renal function in NTP and TP (Table). Baseline eGFR was not predictive of eGFR change in any group. Shorter time from aHUS clinical manifestation predicted greater eGFR gain in all groups (P0.03). Conclusions: Ecu is effective in preserving renal function in NTP and TP and preventing graft loss in TP due to aHUS. These data support early Ecu treatment to prevent ESRD in NTP and prophylactic treatment in pts undergoing transplant. EFFICACY OF ECULIZUMAB IN ATYPICAL HEMOLYTIC UREMIC SYNDROME (aHUS) PATIENTS WITH OR WITHOUT A HISTORY OF DIALYSIS Introduction and Aims: Eculizumab (Ecu), a terminal complement inhibitor, is the only approved treatment for aHUS, a life-threatening disease characterized by chronic uncontrolled complement activation and systemic thrombotic microangiopathy (TMA). Up to 65% of patients ( pts) develop permanent renal damage, end-stage renal disease (ESRD) or die within 1 year of diagnosis.1 Outcomes in pts with progressing TMA( platelets <150109/L despite 4 plasma exchanges/infusions 1 week [wk] before screening) who received 2 years of ongoing Ecu treatment were analyzed based on baseline dialysis status. Methods: Ecu efficacy and safety were evaluated in an open-label, single-arm, 26-wk phase 2 trial with long-term extension in 17 pts age 12 years with progressing TMA. Results: Median Ecu treatment duration was 124 wks and 93 wks for dialysis and nondialysis pts, respectively. Baseline characteristics and Ecu efficacy at 2 years were similar in pts with or without dialysis at baseline (Table). Ecu improved platelet counts and renal function in both pt groups. Four of 5 pts (80%) on di (...truncated)