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Cholestanol in Humans

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ClinicalTrials.gov Identifier: NCT00018694
Recruitment Status : Withdrawn
First Posted : July 5, 2001
Last Update Posted : October 14, 2013
Information provided by (Responsible Party):
VA Office of Research and Development

Brief Summary:
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 or disease Intervention/treatment
Cerebrotendinous Xanthomatosis Drug: Chenodeoxycholic Acid

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.

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 0 participants
Allocation: Non-Randomized
Masking: None (Open Label)
Official Title: Biologic Significance of Cholestanol in Man
Study Start Date : October 1999
Primary Completion Date : December 2009
Study Completion Date : December 2009

Arm Intervention/treatment
Arm 1 Drug: Chenodeoxycholic Acid

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 80 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

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

Exclusion Criteria:

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 ClinicalTrials.gov identifier (NCT number): NCT00018694

United States, New Jersey
VA New Jersey Health Care System, East Orange
East Orange, New Jersey, United States, 07018
Sponsors and Collaborators
VA Office of Research and Development
Principal Investigator: Gerald Salen VA New Jersey Health Care System, East Orange

Responsible Party: VA Office of Research and Development
ClinicalTrials.gov Identifier: NCT00018694     History of Changes
Other Study ID Numbers: GAST-007-99S
First Posted: July 5, 2001    Key Record Dates
Last Update Posted: October 14, 2013
Last Verified: October 2013

Keywords provided by VA Office of Research and Development:
bile acid synthesis
chenodeoxycholic acid
sterol 27-hydroxylase

Additional relevant MeSH terms:
Xanthomatosis, Cerebrotendinous
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Chenodeoxycholic Acid
Gastrointestinal Agents