4 recruiting, 1 completed, 1 terminated. .
Follow Refsum Disease: new trials by email Literature Review of Refsum Disease trials Research Report on Refsum Disease
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathy IV | Terminated | Neurogene Inc. | 21 | 2019-07-18 | 2022-03-31 | |
| LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies Leukodystrophy, White Matter Disease | Completed | Children's Hospital of Philadelphia | 236 | 2017-01-06 | 2025-11-10 | |
| The Myelin Disorders Biorepository Project Leukodystrophy, White Matter Disease | Recruiting | Children's Hospital of Philadelphia | 12000 | 2016-12-08 | 2025-10-23 | |
| Inherited Retinal Degenerative Disease Registry Eye Diseases Hereditary, Retinal Disease | Recruiting | Foundation Fighting Blindness | 20000 | 2014-06-01 | 2026-05-19 | |
| Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder | Recruiting | McGill University Health Centre/Research Institute of the McGill University Health Centre | 244 | 2012-01-01 | 2026-10-13 | |
| Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Rare Disorders, Undiagnosed Disorders | Recruiting | Sanford Health | 20000 | 2010-07-01 | 2025-05-29 |
Charcot-Marie-Tooth Disease (4) · Cockayne Syndrome (3) · Leukodystrophy, Metachromatic (3) · Leukoencephalopathy Brain Calcifications and Cysts (3) · Zellweger Syndrome (3) · Adrenoleukodystrophy (2) · Aicardi-Goutieres syndrome (2) · Alexander Disease (2) · Alexanders leukodystrophy (2) · Allan-Herndon-Dudley syndrome (2) · Attention Deficit Disorder with Hyperactivity (2) · CADASIL (2) · Canavan Disease (2) · Gangliosidoses (2)
Brain Diseases (6) · Brain Diseases, Metabolic (6) · Brain Diseases, Metabolic, Inborn (6) · Central Nervous System Diseases (6) · Congenital Abnormalities (6) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (6) · Genetic Diseases, Inborn (6) · Hereditary Sensory and Motor Neuropathy (6) · Heredodegenerative Disorders, Nervous System (6) · Metabolic Diseases (6) · Metabolism, Inborn Errors (6) · Nervous System Diseases (6) · Nervous System Malformations (6) · Neurodegenerative Diseases (6) · Neuromuscular Diseases (6)
Children's Hospital of Philadelphia (2) · Foundation Fighting Blindness (1) · McGill University Health Centre/Research Institute of the McGill University Health Centre (1) · Neurogene Inc. (1) · Sanford Health (1)
United States (5) · Australia (1) · Canada (1)
Adeline Vanderver, MD (2) · Elise Beausoleil (1) · Nancy E Braverman, MD, MS (1) · Todd Durham, PhD (1)
PMID 32342562, PMID 32749716, PMID 34534157, PMID 35106698, PMID 37541626
U01NS106845 (1), U54NS115052 (1)