A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia

Autor: Vaneisse C. L. Monteiro, Bibiana M. de Oliveira, Bruna B. dos Santos, Fernanda Sperb-Ludwig, Lilia F. Refosco, Tatiele Nalin, Terry G. J. Derks, Carolina F. Moura de Souza, Ida V. D. Schwartz

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

Abstract Background Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is effective in achieving

Externí odkaz: https://doaj.org/article/dca94da94d5f4fccb400079ba8306451

Body composition in patients with hepatic glycogen storage diseases

Autor: Bruna B. dos Santos, Karina Colonetti, Tatiéle Nalin, Bibiana M. de Oliveira, Carolina F.M. de Souza, Poli Mara Spritzer, Ida V.D. Schwartz

Publikováno v: Nutrition (Burbank, Los Angeles County, Calif.).

The present study aimed to evaluate the body composition of hepatic glycogen storage disorders (GSDs) through dual energy x-ray absorptiometry.This was an exploratory, observational, cross-sectional study. Twenty-four patients with GSD (type Ia: n =

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5c839cc3a8f82164f1623c351e39ad8
https://pubmed.ncbi.nlm.nih.gov/35843041

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

Autor: Schoenmakers DH; From 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., van den Berg S; From 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., Timmers L; From 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., Adang LA; From 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., Bäumer T; From 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., Bosch A; From 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., van de Casteele M; From 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., Datema MR; From 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., Dekker H; From 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., Donnelly C; From 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., Driessens MHE; From 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., Graessner H; From 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., Greger V; From 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., Haddad T; From 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., Höglinger GU; From 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., van den Hout H; From 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., Jonker C; From 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., Langeveld M; From 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., Lambert LJ; From 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., Neacy E; From 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., Nieuwland M; From 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., Klockgether T; From 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., van der Knaap MS; From 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., Papadopoulou A; From 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., Plueschke K; From 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., van Rijn S; From 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., Rosenberg N; From 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., Saunier-Vivar EF; From 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., Dos Santos Vieira B; From 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., Hollak CEM; From 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., Goettsch WG; From 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., Wolf NI; From 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.

Publikováno v: Neurology [Neurology] 2024 Sep 24; Vol. 103 (6), pp. e209743. Date of Electronic Publication: 2024 Aug 22.

Evaluation of functional candidate biomarkers of non-genotoxic hepatocarcinogenicity in human liver spheroid co-cultures.

Autor: Dos Santos Rodrigues B; Entity of In Vitro Toxicology and Dermato-Cosmetology, Department of Pharmaceutical and Pharmacological Sciences, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090, Brussels, Belgium., Leroy K; Entity of In Vitro Toxicology and Dermato-Cosmetology, Department of Pharmaceutical and Pharmacological Sciences, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090, Brussels, Belgium., Mihajlovic M; Entity of In Vitro Toxicology and Dermato-Cosmetology, Department of Pharmaceutical and Pharmacological Sciences, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090, Brussels, Belgium., De Boever S; Entity of In Vitro Toxicology and Dermato-Cosmetology, Department of Pharmaceutical and Pharmacological Sciences, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090, Brussels, Belgium., Vanbellingen S; Entity of Neuro-Aging and Viro-Immunotherapy, Department of Pharmaceutical and Pharmacological Sciences, Vrije Universiteit Brussel, Brussels, Belgium., Cogliati B; School of Veterinary Medicine and Animal Science, Department of Pathology, University of São Paulo, São Paulo, Brazil., Aerts JL; Entity of Neuro-Aging and Viro-Immunotherapy, Department of Pharmaceutical and Pharmacological Sciences, Vrije Universiteit Brussel, Brussels, Belgium., Vinken M; Entity of In Vitro Toxicology and Dermato-Cosmetology, Department of Pharmaceutical and Pharmacological Sciences, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090, Brussels, Belgium. mathieu.vinken@vub.be.

Publikováno v: Archives of toxicology [Arch Toxicol] 2023 Jun; Vol. 97 (6), pp. 1739-1751. Date of Electronic Publication: 2023 Mar 20.

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.

Autor: Dos Santos Vieira B; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Medical Imaging, Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands., Bernabé CH; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Zhang S; Department of Medical Informatics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Public Health, Methodology and Global Health, Amsterdam, The Netherlands., Abaza H; Medical Informatics Group (MIG), University Hospital Frankfurt, Frankfurt, Germany., Benis N; Department of Medical Informatics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Public Health, Methodology and Global Health, Amsterdam, The Netherlands., Cámara A; Departamento de Biotecnología-Biología Vegetal, Escuela Técnica Superior de Ingeniería Agronómica, Alimentaria y de Biosistemas, Centro de Biotecnología y Genómica de Plantas (CBGP, UPM-INIA), Universidad Politécnica de Madrid (UPM) - Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA), Madrid, Spain., Cornet R; Department of Medical Informatics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Public Health, Methodology and Global Health, Amsterdam, The Netherlands., Le Cornec CMA; Division of Paediatric Nephrology, Centre for Paediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany., 't Hoen PAC; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Schaefer F; Division of Paediatric Nephrology, Centre for Paediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany., van der Velde KJ; Genomics Coordination Center, University of Groningen and University Medical Center, Groningen, The Netherlands., Swertz MA; Genomics Coordination Center, University of Groningen and University Medical Center, Groningen, The Netherlands., Wilkinson MD; Departamento de Biotecnología-Biología Vegetal, Escuela Técnica Superior de Ingeniería Agronómica, Alimentaria y de Biosistemas, Centro de Biotecnología y Genómica de Plantas (CBGP, UPM-INIA), Universidad Politécnica de Madrid (UPM) - Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA), Madrid, Spain., Jacobsen A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. a.jacobsen@lumc.nl., Roos M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. m.roos@lumc.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Dec 14; Vol. 17 (1), pp. 436. Date of Electronic Publication: 2022 Dec 14.