Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases

Daphne H Schoenmakers¹, Sibren van den Berg¹, Lonneke Timmers¹+29

• ¹From the Department of Child Neurology (D.H.S., M.S.v.d.K., N.I.W.), Emma's Children's Hospital, Amsterdam UMC location Vrije Universiteit; Amsterdam Leukodystrophy Center (D.H.S., M.S.v.d.K., N.I.W.), Amsterdam Neuroscience, Cellular & Molecular Mechanisms; Medicine for Society (D.H.S., S.v.d.B., N.R., C.E.M.H.), Platform at Amsterdam UMC location University of Amsterdam; Department of Endocrinology and Metabolism (S.v.d.B., A.B., M.R.D., N.R., C.E.M.H.), Amsterdam UMC location University of Amsterdam; National Health Care Institute (Zorginstituut Nederland) (L.T.), Diemen, the Netherlands; Division of Child Neurology (L.A.A.), Children's Hospital of Philadelphia, PA; Institute of Systems Motor Science (T.B.), CBBM, Universität of Lübeck; Centre of Rare Diseases (T.B.), University Hospital Schleswig Holstein, Lübeck, Germany; Division of Metabolic Diseases (A.B.), Department of Pediatrics, Emma Childrens' Hospital, Amsterdam UMC location University of Amsterdam, the Netherlands; National Health Care Institute RIZIV-INAMI (M.v.d.C.), Brussels, Belgium; VKS (H.D.), Dutch Patient Organization for Metabolic Diseases, Zwolle; United for Metabolic Diseases (UMD) (H.D.), Amsterdam, the Netherlands; International Niemann-Pick Disease Registry (C.D.), Washington, Tyne & Wear, United Kingdom; VSOP-Patient Alliance for Rare and Genetic Diseases (M.H.E.D.), Soest, the Netherlands; Institute for Medical Genetics and Applied Genomics (H.G.), University of Tübingen; Centre for Rare Disease (H.G.), University Hospital Tübingen, Germany; Yaya foundation for 4H Leukodystrophy (V.G.), Minneapolis, MN; Orphanet (T.H.), INSERM US14 Rare Disease Platform, Paris, France; Department of Neurology (G.U.H.), LMU University Hospital, Ludwig-Maximilians-Universität (LMU), Munich; German Center for Neurodegenerative Diseases e.V. (DZNE) (G.U.H., T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (G.U.H.), Germany; Department of Pediatrics (H.v.d.H.), Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Sophia Children's Hospital, Rotterdam; European Medicines Agency (C.J., K.P.), Amsterdam; Medicines Evaluation Board (C.J.), Utrecht; Department of Endocrinology and Metabolism (M.L.), Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism (AGEM) Research Institute, University of Amsterdam, the Netherlands; Canadian Agency for Drugs and Health Technology Technologies Agendcy in Health (CADTH) (L.J.L.), Ottawa, Ontario, Canada; CHDI Management, Inc. (E.N.), the company that manages the scientific activities of CHDI Foundation, Inc., New York, NY; National Health Care Institute (M.N., W.G.G.), Diemen, the Netherlands; Department of Neurology (T.K.), University of Bonn, Germany; Department of Integrative Neurophysiology (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; European Commission (A.P.), Joint Research Centre (JRC), Ispra, Italy; Patient Advocate Organization 'Vereniging HCHWA-d' (HCHWA-D Association) (S.v.R.), the Netherlands; European Leukodystrophies Association (E.F.S.-V.), Paris, France; Medical BioSciences Department (B.d.S.V.), Radboud University Medical Center, Nijmegen; and WHO Collaborating Centre for Pharmaceutical Policy and Regulation (W.G.G.), Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht University, the Netherlands.