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| Sponsors and Collaborators: |
FDA Office of Orphan Products Development Children's Hospital Medical Center, Cincinnati |
|---|---|
| Information provided by: | FDA Office of Orphan Products Development |
| ClinicalTrials.gov Identifier: | NCT00004442 |
Purpose
OBJECTIVES: I. Determine the effectiveness of oral bile acid therapy with cholic acid, chenodeoxycholic acid, and ursodeoxycholic acid in patients with peroxisomal disorders involving impaired primary bile acid synthesis. II. Determine whether suppression of synthesis of atypical bile acids and enrichment of bile acid pool with this regimen is effective in treating this patient population and improving quality of life.
| Condition | Intervention |
|---|---|
|
Infantile Refsum's Disease Zellweger Syndrome Bifunctional Enzyme Deficiency Adrenoleukodystrophy |
Drug: chenodeoxycholic acid Drug: cholic acid Drug: ursodiol |
| Study Type: | Interventional |
| Study Design: | Treatment |
| Estimated Enrollment: | 25 |
PROTOCOL OUTLINE: Patients receive oral cholic acid and oral chenodeoxycholic acid on day 1. On day 4, patients receive oral cholic and ursodeoxycholic acids. Patients are assessed at 3 and 6 months for liver function response, neurologic status, and nutritional status.
Patients receive treatment until disease progression or unacceptable toxic effects are observed.
Eligibility| Ages Eligible for Study: | up to 5 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Biochemically proven peroxisomal disorder, including:
Contacts and Locations More Information
| Study ID Numbers: | 199/13442, CHMC-C-FDR000995 |
| Study First Received: | October 18, 1999 |
| Last Updated: | June 23, 2005 |
| ClinicalTrials.gov Identifier: | NCT00004442 History of Changes |
| Health Authority: | United States: Federal Government |
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Zellweger syndrome adrenoleukodystrophy bifunctional enzyme deficiency inborn errors of metabolism infantile Refsum's disease |
peroxisomal disorders pseudo-Zellweger syndrome rare disease sphingolipidoses |
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Sphingolipidoses Liver Diseases Nervous System Malformations Adrenal Gland Diseases Cathartics Hypoadrenalism Neurodegenerative Diseases Brain Diseases X-linked Adrenoleukodystrophy Ursodeoxycholic Acid Metabolism, Inborn Errors Laxatives Heredodegenerative Disorders, Nervous System Neuromuscular Diseases Adrenoleukodystrophy |
Refsum Disease, Infantile Form Addison Disease Brain Diseases, Metabolic, Inborn Kidney Diseases Metabolic Disorder Adrenal Insufficiency Metabolic Diseases Demyelinating Diseases Charcot Marie Tooth Disease Endocrine System Diseases Tomaculous Neuropathy Mental Retardation Cholic Acids Chenodeoxycholic Acid Brain Diseases, Metabolic |
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Liver Diseases Nervous System Malformations Refsum Disease, Infantile Adrenal Gland Diseases Cathartics Brain Diseases Neurodegenerative Diseases Hereditary Central Nervous System Demyelinating Diseases Metabolism, Inborn Errors Heredodegenerative Disorders, Nervous System Pathologic Processes Urologic Diseases Neuromuscular Diseases Peroxisomal Disorders Refsum Disease |
Therapeutic Uses Adrenoleukodystrophy Syndrome Hereditary Motor and Sensory Neuropathies Genetic Diseases, X-Linked Abnormalities, Multiple Addison Disease Kidney Diseases Brain Diseases, Metabolic, Inborn Congenital Abnormalities Neurobehavioral Manifestations Adrenal Insufficiency Autoimmune Diseases Metabolic Diseases Disease |
