Study of Bile Acids in Patients With Peroxisomal Disorders

The recruitment status of this study is unknown because the information has not been verified recently.

Verified November 2000 by FDA Office of Orphan Products Development. Recruitment status was Not yet recruiting

First Received on October 18, 1999. Last Updated on June 23, 2005 History of Changes

Sponsor:	FDA Office of Orphan Products Development
Collaborator:	Children's Hospital Medical Center, Cincinnati
Information provided by:	FDA Office of Orphan Products Development
ClinicalTrials.gov Identifier:	NCT00004442

Purpose

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:

Genetics Home Reference related topics: beta-ketothiolase deficiency leukoencephalopathy with vanishing white matter MECP2 duplication syndrome megalencephalic leukoencephalopathy with subcortical cysts PPM-X syndrome Refsum disease succinic semialdehyde dehydrogenase deficiency X-linked adrenoleukodystrophy Zellweger spectrum Help Me Understand Genetics

Drug Information available for: Cholic acid Ursodeoxycholic acid Chenodeoxycholic acid

U.S. FDA Resources

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

Estimated Enrollment:

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.

Eligibility

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

Criteria

Biochemically proven peroxisomal disorder, including:

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004442

Contacts

Contact: Kenneth Setchell

513-636-4548

Sponsors and Collaborators

FDA Office of Orphan Products Development

Children's Hospital Medical Center, Cincinnati

Investigators

Study Chair:

Kenneth Setchell

Children's Hospital Medical Center, Cincinnati

More Information

No publications provided

ClinicalTrials.gov Identifier:	NCT00004442 History of Changes
Other Study ID Numbers:	199/13442, CHMC-C-FDR000995
Study First Received:	October 18, 1999
Last Updated:	June 23, 2005
Health Authority:	United States: Federal Government

Keywords provided by FDA Office of Orphan Products Development:

Zellweger syndrome
adrenoleukodystrophy
bifunctional enzyme deficiency
inborn errors of metabolism
infantile Refsum's disease

peroxisomal disorders
pseudo-Zellweger syndrome
rare disease
sphingolipidoses

Additional relevant MeSH terms:

Refsum Disease
Zellweger Syndrome
Adrenoleukodystrophy
Refsum Disease, Infantile
Peroxisomal Disorders
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Hereditary Sensory and Motor Neuropathy
Nervous System Malformations
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Polyneuropathies

Peripheral Nervous System Diseases
Neuromuscular Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Metabolic Diseases
Liver Diseases
Digestive System Diseases
Kidney Diseases
Urologic Diseases
Abnormalities, Multiple
Hereditary Central Nervous System Demyelinating Diseases
Leukoencephalopathies
Demyelinating Diseases
Mental Retardation, X-Linked

ClinicalTrials.gov processed this record on February 12, 2012