Study of Bile Acids in Patients With Peroxisomal Disorders - Full Text View

Study of Bile Acids in Patients With Peroxisomal Disorders

This study is not yet open for participant recruitment.
Verified by FDA Office of Orphan Products Development, November 2000

Sponsors and Collaborators:	FDA Office of Orphan Products Development 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

Genetics Home Reference related topics:

beta-ketothiolase deficiency Charcot-Marie-Tooth disease familial encephalopathy with neuroserpin inclusion bodies hereditary neuropathy with liability to pressure palsies L1 syndrome leukoencephalopathy with vanishing white matter megalencephalic leukoencephalopathy with subcortical cysts X-linked adrenoleukodystrophy

MedlinePlus related topics:

Addison's Disease

Drug Information available for:

Ursodeoxycholic acid Cholic acid Chenodeoxycholic acid

U.S. FDA Resources

Study Type:	Interventional
Study Design:	Treatment

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

Study ID Numbers:	199/13442, CHMC-C-FDR000995
First Received:	October 18, 1999
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00004442
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

Study placed in the following topic categories:

Sphingolipidoses

Liver Diseases

Nervous System Malformations

Roussy Levy hereditary areflexic dystasia

Adrenal Gland Diseases

Demyelinating diseases

Hypoadrenalism

Neurodegenerative Diseases

Brain Diseases

Ursodeoxycholic Acid

Metabolism, Inborn Errors

Heredodegenerative Disorders, Nervous System

Neuromuscular Diseases

Adrenoleukodystrophy

Addison Disease

Brain Diseases, Metabolic, Inborn

Kidney Diseases

Zellweger syndrome

Refsum disease

Adrenal Insufficiency

Metabolic Diseases

Demyelinating Diseases

Endocrine System Diseases

Phytanic acid oxidase deficiency

Mental Retardation

Cholic Acids

Chenodeoxycholic Acid

Metabolic disorder

Brain Diseases, Metabolic

Addison's disease

Additional relevant MeSH terms:

Pathologic Processes

Disease

Immune System Diseases

Therapeutic Uses

Syndrome

Nervous System Diseases

Gastrointestinal Agents

Cathartics

Mental Retardation, X-Linked

Hereditary Central Nervous System Demyelinating Diseases

Pharmacologic Actions

ClinicalTrials.gov processed this record on November 20, 2008