Study of Bile Acids in Patients With Peroxisomal Disorders

University of Cincinnati25 enrolled

Overview

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.

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

Study Type

INTERVENTIONAL

Purpose

TREATMENT

Enrollment

Conditions

Infantile Refsum's Disease Zellweger Syndrome Bifunctional Enzyme Deficiency Adrenoleukodystrophy

Interventions

chenodeoxycholic acidDRUG

cholic acidDRUG

ursodiolDRUG

Eligibility

Sex: ALLMax age: 5 Years

Medical Language ↔ Plain English

Biochemically proven peroxisomal disorder, including: * Zellweger syndrome * Pseudo-Zellweger syndrome * Neonatal adrenoleukodystrophy * Bifunctional enzyme deficiency * Infantile Refsum's disease

Data from ClinicalTrials.gov

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