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	Treatment or Intervention
Infantile Refsum's Disease Zellweger Syndrome Bifunctional Enzyme Deficiency Adrenoleukodystrophy	Drug: chenodeoxycholic acid  Drug: cholic acid  Drug: ursodiol

Further Study Details: 

Expected Total 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.

Ages Eligible for Study:  up to  5 Years,  Genders Eligible for Study:  Both

Criteria

Biochemically proven peroxisomal disorder, including:

• Zellweger syndrome
• Pseudo-Zellweger syndrome
• Neonatal adrenoleukodystrophy
• Bifunctional enzyme deficiency
• Infantile Refsum's disease

Kenneth Setchell      513-636-4548 

Study chairs or principal investigators

Kenneth Setchell,  Study Chair,  Children's Hospital Medical Center - Cincinnati   

Study ID Numbers:  199/13442; CHMC-C-FDR000995
Record last reviewed:  November 2000
Last Updated:  October 13, 2004
Record first received:  October 18, 1999
ClinicalTrials.gov Identifier:  NCT00004442
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08