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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 |
| MedlinePlus related topics: | Addison's Disease |
| ChemIDplus related topics: | Cholic acid |
| 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 | |||||
| National Center for Research Resources (NCRR) |
| Children's Hospital Medical Center, Cincinnati |
| Study Chair: | James Heubi | Children's Hospital Medical Center, Cincinnati |
More Information
| Study ID Numbers: | NCRR-M01RR08084-0009, CHMC-C-91-10-10 |
| First Received: | December 6, 2000 |
| Last Updated: | June 23, 2005 |
| ClinicalTrials.gov Identifier: | NCT00007020 |
| Health Authority: | United States: Federal Government |
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