Cholestanol in Humans - Full Text View

Sponsored by:	Department of Veterans Affairs
Information provided by:	Department of Veterans Affairs
ClinicalTrials.gov Identifier:	NCT00018694

Purpose

The treatment of cerebrotendinous xanthomatosis an in born error of bile acid synthesis with chenodeoxycholic acid. Patients with this disease over produce cholestanol and bile acid precursors because of the block in synthesis. Replacement with chenodeoxycholic acid shut down abnormal pathway and reduces elevated level of cholestanol and improves the clinical syndrome.

Condition	Intervention
Cerebrotendinous Xanthomatosis	Drug: Chenodeoxycholic Acid

Genetics Home Reference related topics: cerebrotendinous xanthomatosis Chanarin-Dorfman syndrome cholesteryl ester storage disease Farber lipogranulomatosis long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency mitochondrial trifunctional protein deficiency primary carnitine deficiency

Drug Information available for: Cholestanol Chenodeoxycholic acid

U.S. FDA Resources

Study Type:	Interventional
Study Design:	Treatment, Non-Randomized, Open Label
Official Title:	Biologic Significance of Cholestanol in Man

Further study details as provided by Department of Veterans Affairs:

Study Start Date:

October 1999

Detailed Description:

Cerebrotendinous xanthomatosis is a recessively inherited in born of bile acid synthesis due to a mutation in sterol 27-hydroxylase (CYP27A1). Patients with this disease suffer from xanthomas located in the brain and tendon, accelerated atherosclerosis progression neurologic disease and cataracts. Plasma cholesterol levels are normal but cholestanol and C-27 bile alcohol that precursor of bile acid synthesis accumulate and are believe are responsible for the atherosclerosis, xanthomas and neurologic disease. Analysis of the bile reveal a severe sufficiency of the primary bile acid chenodeoxycholic acid that can not be produce because of the inherited defect. However, replacement of chenodeoxycholic acid in the enterohepatic pool inhibit abnormal bile acid synthesis and reduces the elevated level of cholestanol and C-27 bile alcohol this therapy halt the neurologic disease and prevents symptomatic atherosclerosis developing.

Eligibility

Ages Eligible for Study:	5 Years to 80 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

Inclusion Criteria:

Patients with clinical and biochemical findings of cerebrotendinous xanthomatosis.
Elevated levels of serum cholestanol and bile acid precursors.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00018694

Locations

United States, New Jersey
VA MC-NJ Healthcare System
East Orange, New Jersey, United States, 07018

Sponsors and Collaborators

Department of Veterans Affairs

More Information

No publications provided

Study ID Numbers:	GAST-007-99S
Study First Received:	July 3, 2001
Last Updated:	January 20, 2009
ClinicalTrials.gov Identifier:	NCT00018694
Health Authority:	United States: Food and Drug Administration

Keywords provided by Department of Veterans Affairs:

bile acid synthesis
chenodeoxycholic acid
sterol 27-hydroxylase

Study placed in the following topic categories:

Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Xanthomatosis
Metabolic Diseases
Genetic Diseases, Inborn

Chenodeoxycholic Acid
Cerebrotendinous xanthomatosis
Xanthomatosis, Cerebrotendinous
Metabolic disorder
Lipid Metabolism Disorders

Additional relevant MeSH terms:

Therapeutic Uses
Gastrointestinal Agents
Cathartics
Pharmacologic Actions

ClinicalTrials.gov processed this record on February 12, 2009