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Study of Bile Acids in Patients With Peroxisomal Disorders

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00004442
Recruitment Status : Terminated
First Posted : October 19, 1999
Last Update Posted : March 25, 2015
Children's Hospital Medical Center, Cincinnati
Information provided by:
FDA Office of Orphan Products Development

Brief Summary:

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 or disease Intervention/treatment Phase
Infantile Refsum's Disease Zellweger Syndrome Bifunctional Enzyme Deficiency Adrenoleukodystrophy Drug: chenodeoxycholic acid Drug: cholic acid Drug: ursodiol Not Applicable

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

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 25 participants
Primary Purpose: Treatment
Study Completion Date : April 1999

Information from the National Library of Medicine

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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00004442

Sponsors and Collaborators
University of Cincinnati
Children's Hospital Medical Center, Cincinnati
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Study Chair: Kenneth Setchell Children's Hospital Medical Center, Cincinnati
Layout table for additonal information Identifier: NCT00004442    
Other Study ID Numbers: 199/13442
First Posted: October 19, 1999    Key Record Dates
Last Update Posted: March 25, 2015
Last Verified: November 2000
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:
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Zellweger Syndrome
Refsum Disease
Refsum Disease, Infantile
Peroxisomal Disorders
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
Hereditary Sensory and Motor Neuropathy
Nervous System Malformations