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| Sponsors and Collaborators: |
National Center for Research Resources (NCRR) Children's Hospital Medical Center, Cincinnati |
|---|---|
| Information provided by: | National Center for Research Resources (NCRR) |
| ClinicalTrials.gov Identifier: | NCT00007020 |
Purpose
OBJECTIVES:
I. Extend the screening procedures for the identification of patients with inborn errors in bile acid synthesis.
II. Determine the pathophysiology of newly described genetic defects in these patients.
III. Determine the effect of oral cholic acid on the clinical course of these patients.
| Condition |
|---|
|
Infantile Refsum's Disease Zellweger Syndrome Hyperpipecolic Acidemia Adrenoleukodystrophy Peroxisomal Disorders Cholestasis Bifunctional Enzyme Deficiency |
| Study Type: | Observational |
| Study Design: | Screening |
| Estimated Enrollment: | 21 |
| Study Start Date: | August 2000 |
PROTOCOL OUTLINE:
Patients receive oral cholic acid and oral chenodeoxycholic acid on Day 1. Bile is collected on Day 2, followed by a percutaneous liver biopsy on Day 3.
Patients then receive oral cholic acid beginning on Day 4 and continuing indefinitely.
Eligibility| Ages Eligible for Study: | up to 17 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
PROTOCOL ENTRY CRITERIA:
--Disease Characteristics--
Clinical or biochemical evidence of liver disease, unexplained fat-soluble vitamin malabsorption, or peroxisomal dysfunction that compromises bile acid biosynthesis: Zellweger syndrome, Infantile Refsum's disease, Pseudo-Zellweger syndrome, Neonatal adrenoleukodystrophy, Hyperpipecolic acidemia, or Bifunctional enzyme deficiency
Presenting for evaluation of cholestasis: bilirubin greater than 2 mg/dL OR increased serum bile acids for age
Other organ dysfunction allowed
Contacts and Locations| United States, Ohio | |
| Children's Hospital Medical Center - Cincinnati | |
| Cincinnati, Ohio, United States, 45229-3039 | |
| Study Chair: | James Heubi | Children's Hospital Medical Center, Cincinnati |
More Information
| Study ID Numbers: | NCRR-M01RR08084-0009, CHMC-C-91-10-10 |
| Study First Received: | December 6, 2000 |
| Last Updated: | June 23, 2005 |
| ClinicalTrials.gov Identifier: | NCT00007020 History of Changes |
| Health Authority: | United States: Federal Government |
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Zellweger syndrome adrenoleukodystrophy bifunctional enzyme deficiency cholestasis gastrointestinal disorders hyperpipecolic acidemia inborn errors of metabolism |
infantile Refsum's disease peroxisomal disorders pseudo-Zellweger syndrome rare disease sphingolipidoses Zellweger-Like Syndrome |
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Sphingolipidoses Liver Diseases Nervous System Malformations Adrenal Gland Diseases Hypoadrenalism Neurodegenerative Diseases Brain Diseases X-linked Adrenoleukodystrophy Metabolism, Inborn Errors 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 Bile Duct Diseases Mental Retardation, X-Linked Brain Diseases, Metabolic Addison's Disease Roussy Levy Hereditary Areflexic Dystasia |
|
Liver Diseases Cholestasis Nervous System Malformations Refsum Disease, Infantile Adrenal Gland Diseases Brain Diseases Neurodegenerative Diseases Hereditary Central Nervous System Demyelinating Diseases Metabolism, Inborn Errors Pathologic Processes Heredodegenerative Disorders, Nervous System Urologic Diseases Neuromuscular Diseases Peroxisomal Disorders Refsum Disease |
Biliary Tract Diseases 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 Disease Metabolic Diseases |
