Study of Bile Acids in Patients With Peroxisomal Disorders

This study has been terminated.
Children's Hospital Medical Center, Cincinnati
Information provided by:
FDA Office of Orphan Products Development Identifier:
First received: October 18, 1999
Last updated: March 24, 2015
Last verified: November 2000

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

Study Type: Interventional
Study Design: Primary Purpose: Treatment

Resource links provided by NLM:

Further study details as provided by FDA Office of Orphan Products Development:

Estimated Enrollment: 25
Estimated Study Completion Date: April 1999
Detailed 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


Ages Eligible for Study:   up to 5 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Biochemically proven peroxisomal disorder, including:

  • Zellweger syndrome
  • Pseudo-Zellweger syndrome
  • Neonatal adrenoleukodystrophy
  • Bifunctional enzyme deficiency
  • Infantile Refsum's disease
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Please refer to this study by its identifier: NCT00004442

Sponsors and Collaborators
University of Cincinnati
Children's Hospital Medical Center, Cincinnati
Study Chair: Kenneth Setchell Children's Hospital Medical Center, Cincinnati
  More Information Identifier: NCT00004442     History of Changes
Other Study ID Numbers: 199/13442  CHMC-C-FDR000995 
Study First Received: October 18, 1999
Last Updated: March 24, 2015
Health Authority: United States: Federal Government

Keywords provided by FDA Office of Orphan Products Development:
Zellweger syndrome
bifunctional enzyme deficiency
inborn errors of metabolism
infantile Refsum's disease
peroxisomal disorders
pseudo-Zellweger syndrome
rare disease

Additional relevant MeSH terms:
Peroxisomal Disorders
Refsum Disease
Refsum Disease, Infantile
Zellweger Syndrome
Abnormalities, Multiple
Adrenal Gland Diseases
Adrenal Insufficiency
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Congenital Abnormalities
Demyelinating Diseases
Digestive System Diseases
Endocrine System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Hereditary Central Nervous System Demyelinating Diseases
Hereditary Sensory and Motor Neuropathy
Heredodegenerative Disorders, Nervous System
Intellectual Disability
Kidney Diseases
Liver Diseases
Mental Retardation, X-Linked
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Nervous System Malformations processed this record on May 26, 2016