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Recruiting
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
NCT06190626
- Conditions
- Abnormalities, Multiple, Brain Diseases, Brain Diseases, Metabolic, +22 more
- Locations
-
- University of Rochester Medical Center/Flaum Eye Institute Rochester, New York, United States
- Eye Institute of Alberta Edmonton, Alberta, Canada
- Research Institute-McGill University Health Center Montreal, Quebec, Canada
Recruiting
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
NCT01668186
- Conditions
- ACBD5 (AcylCoA Binding Domain 5) Deficiency, ATP Binding Cassette Subfamily D Member 3 Gene Mutation, Abnormalities, Multiple, +48 more
- Locations
-
- Research Institute of the McGill University Health Center Montreal, Quebec, Canada
Recruiting
The Myelin Disorders Biorepository Project
NCT03047369
- Conditions
- 4H Syndrome, ADLD, AGS, +173 more
- Locations
-
- Children's Hospital of Los Angeles Los Angeles, California, United States
- Children's Hospital of Orange County Orange, California, United States
- Stanford University (Lucile Packard Children's Hospital) Palo Alto, California, United States
- University of California, Davis (UC Davis Health) Sacramento, California, United States
NCT02699190
- Conditions
- 4H Syndrome, ADLD, AGS, +173 more
- Locations
-
- The Children's Hospital of Philadelphia Philadelphia, Pennsylvania, United States
Completed
Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
NCT00007020
- Conditions
- Abnormalities, Multiple, Adrenal Gland Diseases, Adrenal Insufficiency, +37 more
- Locations
-
- Cincinnati Children's Hospital Medical Center Cincinnati, Ohio, United States
NCT03856866
- Conditions
- Abnormalities, Multiple, Brain Diseases, Brain Diseases, Metabolic, +21 more
- Locations
-
- The Hospital for Sick Children Toronto, Ontario, Canada
NCT03440905
- Conditions
- Abnormalities, Multiple, Brain Diseases, Brain Diseases, Metabolic, +20 more
- Locations
-
- University of South Florida Tampa, Florida, United States
NCT01838941
- Conditions
- Abnormalities, Multiple, Brain Diseases, Brain Diseases, Metabolic, +22 more
- Locations
-
- Montreal Children's Hospital Montreal, Quebec, Canada
Active, Not Recruiting
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT02171104
- Conditions
- Abnormalities, Multiple, Acyl-CoA Oxidase Deficiency, Adrenoleukodystrophy With Cerebral Involvement, +85 more
- Locations
-
- Masonic Cancer Center, University of Minnesota Minneapolis, Minnesota, United States
Active, Not Recruiting
The REPLACE Registry for Cholbam® (Cholic Acid)
NCT03115086
- Conditions
- Abnormalities, Multiple, Bile Acid Synthesis Disorders, Brain Diseases, +20 more
- Locations
-
- University of Alabama Birmingham Birmingham, Alabama, United States
- Stanford School of Medicine Palo Alto, California, United States
- UC San Francisco San Francisco, California, United States
- Kidz Pediatric Multispecialty Group Hollywood, Florida, United States