Study of Bile Acids in Patients With Peroxisomal Disorders

University of Cincinnati

Status: Terminated

Conditions: Zellweger Syndrome; Adrenoleukodystrophy; Infantile Refsum's Disease; Bifunctional Enzyme Deficiency

Treatments: Drug: ursodiol; Drug: cholic acid; Drug: chenodeoxycholic acid

Study type: Interventional

Funder types: Other

Identifiers

NCT00004442

199/13442

CHMC-C-FDR000995

Details and patient eligibility

About

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.

Full description

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.

Completion date provided represents the completion date of the grant per OOPD records

Enrollment: 25 estimated patients

Sex: All

Ages: Under 5 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Biochemically proven peroxisomal disorder, including:

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