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

Further Study Details: 

Expected Total Enrollment:  21

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.

Ages Eligible for Study:  up to  17 Years,  Genders Eligible for Study:  Both

Criteria

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

Ohio
      Children's Hospital Medical Center - Cincinnati, Cincinnati,  Ohio,  45229-3039,  United States

Study chairs or principal investigators

James Heubi,  Study Chair,  Children's Hospital Medical Center - Cincinnati   

Study ID Numbers:  NCRR-M01RR08084-0009; CHMC-C-91-10-10
Record last reviewed:  December 2003
Last Updated:  October 13, 2004
Record first received:  December 6, 2000
ClinicalTrials.gov Identifier:  NCT00007020
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08