5 completed, 3 recruiting, 2 active not recruiting, 1 terminated. 2 Phase 2, 2 Phase 3, 1 Not applicable.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 2 | Active not recruiting 1, Completed 1 |
| Phase 3 | 2 | Completed 2 |
| Not applicable | 1 | Terminated 1 |
Follow Zellweger Syndrome: new trials by email Literature Review of Zellweger Syndrome trials Research Report on Zellweger Syndrome
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 |
|---|---|---|---|---|---|---|
| Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder Zellweger Spectrum Disorder | Recruiting | McGill University Health Centre/Research Institute of the McGill University Health Centre | 30 | 2023-12-18 | 2026-01-21 | |
| Hydroxychloroquine Administration for Reduction of Pexophagy Hydroxychloroquine, Placebo - Zellweger Syndrome, Peroxisome Biogenesis Disorders | Phase 2 | Completed | The Hospital for Sick Children | 3 | 2019-01-11 | 2020-12-17 |
| Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Zellweger Spectrum | Completed | University of South Florida | 92 | 2018-01-29 | 2019-10-16 | |
| The REPLACE Registry for Cholbam® (Cholic Acid) Cholbam - Bile Acid Synthesis Disorders | Active not recruiting | Mirum Pharmaceuticals, Inc. | 55 | 2017-07-10 | 2026-07-31 | |
| 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 | |
| MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen - Mucopolysaccharidosis Disorders, Hurler Syndrome | Phase 2 | Active not recruiting | Masonic Cancer Center, University of Minnesota | 149 | 2014-07-10 | 2026-01-07 |
| Betaine and Peroxisome Biogenesis Disorders Betaine - Peroxisome Biogenesis Disorders | Phase 3 | Completed | McGill University Health Centre/Research Institute of the McGill University Health Centre | 12 | 2013-03-01 | 2016-06-28 |
| 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 | |
| Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Cholic Acids - Infantile Refsum's Disease, Zellweger Syndrome | Phase 3 | Completed | Mirum Pharmaceuticals, Inc. | 85 | 1992-01-01 | 2023-10-03 |
| Study of Bile Acids in Patients With Peroxisomal Disorders chenodeoxycholic acid, cholic acid, ursodiol - Infantile Refsum's Disease, Zellweger Syndrome | Not applicable | Terminated | University of Cincinnati | 25 | 2015-03-25 |
Peroxisomal Disorders (7) · Adrenoleukodystrophy (4) · Refsum Disease, Infantile (4) · Leukodystrophy, Globoid Cell (3) · Leukodystrophy, Metachromatic (3) · Peroxisome biogenesis disorders (3) · Pseudo-Zellweger syndrome (3) · Refsum Disease (3) · Aicardi-Goutieres syndrome (2) · Alexander Disease (2) · Alexanders leukodystrophy (2) · Allan-Herndon-Dudley syndrome (2) · Alpha-Methylacyl-CoA Racemase Deficiency (2) · Attention Deficit Disorder with Hyperactivity (2)
Abnormalities, Multiple (11) · Brain Diseases (11) · Brain Diseases, Metabolic (11) · Brain Diseases, Metabolic, Inborn (11) · Central Nervous System Diseases (11) · Congenital Abnormalities (11) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (11) · Digestive System Diseases (11) · Female Urogenital Diseases (11) · Female Urogenital Diseases and Pregnancy Complications (11) · Genetic Diseases, Inborn (11) · Kidney Diseases (11) · Liver Diseases (11) · Male Urogenital Diseases (11) · Metabolic Diseases (11)
Cholic Acid (3) · Betaine (1) · Chenodeoxycholic Acid (1) · Cholic Acids (1) · Hydroxychloroquine (1) · Regimen B (1) · Stem Cell Transplantation (1) · Ursodeoxycholic Acid (1)
McGill University Health Centre/Research Institute of the McGill University Health Centre (3) · Children's Hospital of Philadelphia (2) · Mirum Pharmaceuticals, Inc. (2) · Masonic Cancer Center, University of Minnesota (1) · The Hospital for Sick Children (1) · University of Cincinnati (1) · University of South Florida (1)
United States (7) · Canada (4)
Adeline Vanderver, MD (2) · Nancy E Braverman, MD, MS (2) · James Heubi, MD (1) · Kenneth Setchell (1) · Kenneth Setchell, PhD (1) · Nancy Braverman, PhD, MD (1) · Neal Sondheimer, MD (1) · Paul Orchard, M.D. (1) · Sagar A Vaidya, MD, PhD (1)
PMID 28644367, PMID 32342562, PMID 32749716, PMID 34534157, PMID 35106698, PMID 37541626
U01NS106845 (1), U54NS115052 (1)