Status | Study |
Recruiting |
Study Name: Inherited Retinal Degenerative Disease Registry Condition: Eye Diseases Hereditary Retinal Disease Achromatopsia Date: 2015-04-03 |
Recruiting |
Study Name: MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Condition: Mucopolysaccharidosis Disorders Hurler Syndrome Hunter Syn Date: 2014-06-20 Interventions: Biological: Stem Cell Transplantation |
Completed |
Study Name: Betaine and Peroxisome Biogenesis Disorders Condition: Peroxisome Biogenesis Disorders Date: 2013-03-29 Interventions: Drug: Betaine Betaine will be given orally (mixed with foo |
Completed |
Study Name: Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Condition: Infantile Refsum's Disease Zellweger Syndrome Date: 2000-12-06 Interventions: Drug: Cholic Acids 10-15 mg/kg body weight/day taken orally. |
Terminated |
Study Name: Study of Bile Acids in Patients With Peroxisomal Disorders Condition: Infantile Refsum's Disease Zellweger Syndrome Date: 1999-10-18 Interventions: Drug: chenodeoxycholic acid Drug: cholic a |