Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Author:

Posset Roland1,Garbade Sven F.1,Boy Nikolas1,Burlina Alberto B.2,Dionisi‐Vici Carlo3,Dobbelaere Dries4,Garcia‐Cazorla Angeles5,de Lonlay Pascale6,Teles Elisa Leão7,Vara Roshni8,Mew Nicholas Ah9,Batshaw Mark L.9,Baumgartner Matthias R.10,McCandless Shawn E.11,Seminara Jennifer9,Summar Marshall12,Hoffmann Georg F.1,Kölker Stefan1,Burgard Peter1ORCID,Berry Susan A.13,Burrage Lindsay14,Coughlin Curtis15,Diaz George A.16,Gallagher Renata C.17,Gropman Andrea18,Harding Cary O.19,Lee Brendan14,Le Mons Cynthia20,Lawrence Merritt J.21,Nagamani Sandesh C. S.14,Schulze Andreas22,Stricker Tamar23,Tuchman Mendel18,Waisbren Susan24,WeisfeldAdams James15,Wong Derek25,Yudkoff Marc26,Arnoux JeanBaptiste27,Barić Ivo28,Bosch Annet M.29,Chabrol Brigitte30,Chakrapani Anupam31,CortèsSaladefont Elisenda32,Couce Maria L.33,Eyskens Francois34,Laet Corine35,Meirleir Linda36,Freisinger Peter37,Gleich Florian1,Grünewald Stephanie31,Häberle Johannes38,Hwu WuhLiang39,Jalan Anil40,Karall Daniela41,Lindner Martin42,Lund Allan M.43,Martinelli Diego44,Murphy Elaine45,Mühlhausen Chris46,Olivieri Giorgia44,Ottolenghi Chris27,Rodrigues Esmeralda47,Rubert Laura48,Sarajlija Adrijan49,Schiff Manuel50,Sokal Etienne51,SykutCegielska Jolanta52,Walter John H.53,Williams Monique54,Zeman Jiri55,

Affiliation:

1. Centre for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Inherited Metabolic DiseasesUniversity Hospital Heidelberg, Im Neuenheimer Feld 430 69120 Heidelberg Germany

2. Azienda Ospedaliera di PadovaU.O.C. Malattie Metaboliche Ereditarie Padova Italy

3. Ospedale Pediatrico Bambino GésuU.O.C. Patologia Metabolica Rome Italy

4. Centre de Référence Maladies Héréditaires du Métabolisme de l'Enfant et de l'AdulteJeanne de Flandre Hospital, CHRU Lille, and RADEME EA 7364, Faculty of Medicine, University Lille 2 59037 Lille France

5. Hospital San Joan de DeuInstitut Pediàtric de Recerca, Servicio de Neurologia and CIBERER, ISCIII Barcelona Spain

6. Service de Maladies MétaboliquesHôpital Necker‐Enfants Malades Assistance Publique‐Hôpitaux de Paris Paris France

7. Unidade de Doenças MetabólicasServiço de Pediatria, Hospital de S. João, EPE Porto Portugal

8. Evelina Children's HospitalSt Thomas' Hospital London UK

9. Children’s Research InstituteChildren’s National Health System, 111 Michigan Ave. NW Washington District of Columbia 20010 USA

10. Division of Metabolism and Children’s Research CentreUniversity Children’s Hospital Zurich, Steinwiesstraße 75, CH‐8032 Zurich Zurich Switzerland

11. Section of Genetics and Metabolism, Department of PediatricsChildren’s Hospital Colorado 13123 East 16th Avenue, B153 Aurora Colorado USA

12. Rare Disease InstituteChildren's National Health System 111 Michigan Avenue, NW Washington District of Columbia 20010 USA

13. University of Minnesota Minneapolis Minnesota USA

14. Baylor College of Medicine and Texas Children's Hospital Houston Texas USA

15. Children's Hospital Colorado and University of Colorado School of Medicine Aurora Colorado USA

16. Icahn School of Medicine at Mount Sinai New York New York USA

17. University of California San Francisco, San Francisco California USA

18. Children's National Health System and The George Washington School of Medicine Washington District of Columbia USA

19. Oregon Health and Science University, Portland Oregon USA

20. National Urea Cycle Disorders Foundation, Pasadena California USA

21. University of Washington and Seattle Children's Hospital, Seattle Washington USA

22. The Hospital for Sick Children and University of Toronto Toronto Ontario Canada

23. University Children's Hospital Zurich Zurich Switzerland

24. Harvard Medical School and Boston Children's Hospital Boston Massachusetts USA

25. David Geffen School of Medicine at UCLA Los Angeles California USA

26. University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

27. Hôpital NeckerEnfants Malades, Assistance PubliqueHôpitaux de ParisService de Maladies Métaboliques Paris France

28. University Hospital Center Zagreb and University of Zagreb, School of Medicine Zagreb Croatia

29. Academisch Medisch Centrum, Department of Pediatrics Amsterdam The Netherlands

30. Centre de Référence des Maladies Héréditaires du MétabolismeService de Neurologie, Hôpital d'Enfants, CHU Timone Marseille France

31. Metabolic Unit Great Ormond Street Hospital and Institute for Child HealthUniversity College London London United Kingdom

32. Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII Barcelona Spain

33. Hospital Clinico Universitario de Santiago de Compostela, Metabolic Unit, Department of Pediatrics Santiago de Compostela Spain

34. Universitair Ziekenhuis Antwerpen Antwerpen Belgium

35. Hôpital Universitaire des Enfants Reine Fabiola Brussels Belgium

36. University Hospital Vrije Universiteit Brussel Bruxelles Belgium

37. Klinik für Kinder und Jugendmedizin, Klinikum am Steinenberg Reutlingen Germany

38. University Children's Hospital Zurich, Division of Metabolism and Children's Research Centre, Steinwiesstraße, 75 CH8032 Zurich Switzerland

39. Department of Medical GeneticsNational Taiwan University, Hospital Taipei City Taiwan

40. N.I.R.M.A.N., Om Rachna Society, Vashi, Navi Mumbai Mumbai India

41. Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders Innsbruck Austria

42. University Children's Hospital Frankfurt Frankfurt Germany

43. Centre for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical GeneticsCopenhagen University Hospital, Rigshospitalet Copenhagen Denmark

44. Ospedale Pediatrico Bambino Gésu, U.O.C. Patologia Metabolica Rome Italy

45. National Hospital for Neurology and Neurosurgery, Charles Dent Metabolic Unit London United Kingdom

46. University Children's HospitalUniversity Medical Center HamburgEppendorf Hamburg Germany

47. Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE Porto Portugal

48. Azienda Ospedaliera di Padova, U.O.C. Malattie Metaboliche Ereditarie Padova Italy

49. Belgrade University, School of Medicine, Belgrade Republic of Serbia

50. Hôpital Robert DebréAPHP and Université ParisDiderot, Reference Centre for Inborn Errors of Metabolism Paris France

51. Cliniques Universitaires St LucUniversité Catholique de Louvain, Service Gastroentérologie and Hépatologie Pédiatrique Bruxelles Belgium

52. Institute of Mother and Child, Screening Department Warsaw Poland

53. Manchester Academic Health Science CentreUniversity of Manchester, Willink Biochemical Genetics Unit, Genetic Medicine Manchester United Kingdom

54. Erasmus MCSophia Kinderziekenhuis, Erasmus Universiteit Rotterdam Rotterdam The Netherlands

55. Department of Paediatrics, First Faculty of Medicine and General Faculty Hospital Prague Czech Republic

Funder

National Institute of Child Health and Human Development

Universität Zürich

Kettering Foundation

Kettering Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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