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Trial record 1 of 3 for:    Zellweger Syndrome
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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 Adrenoleukodystrophy 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   (Child)
Sexes Eligible for Study:   All
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
Study First Received: October 18, 1999
Last Updated: March 24, 2015

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:
Zellweger Syndrome
Peroxisomal Disorders
Refsum Disease, Infantile
Refsum Disease
Pathologic Processes
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Hereditary Central Nervous System Demyelinating Diseases
Demyelinating Diseases
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Metabolism, Inborn Errors
Metabolic Diseases
Adrenal Insufficiency
Adrenal Gland Diseases
Endocrine System Diseases
Liver Diseases
Digestive System Diseases processed this record on September 19, 2017