Trial record 3 of 3 for:    "cerebrotendinous xanthomatosis"

Cholestanol in Humans

This study has been withdrawn prior to enrollment.
Sponsor:
Information provided by (Responsible Party):
Department of Veterans Affairs
ClinicalTrials.gov Identifier:
NCT00018694
First received: July 3, 2001
Last updated: October 11, 2013
Last verified: October 2013
  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

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

Resource links provided by NLM:


Further study details as provided by Department of Veterans Affairs:

Enrollment: 0
Study Start Date: October 1999
Study Completion Date: December 2009
Primary Completion Date: December 2009 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Arm 1 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.

  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.

Exclusion Criteria:

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

Locations
United States, New Jersey
VA New Jersey Health Care System, East Orange
East Orange, New Jersey, United States, 07018
Sponsors and Collaborators
Investigators
Principal Investigator: Gerald Salen VA New Jersey Health Care System, East Orange
  More Information

No publications provided

Responsible Party: Department of Veterans Affairs
ClinicalTrials.gov Identifier: NCT00018694     History of Changes
Other Study ID Numbers: GAST-007-99S
Study First Received: July 3, 2001
Last Updated: October 11, 2013
Health Authority: United States: Federal Government
United States: Food and Drug Administration

Keywords provided by Department of Veterans Affairs:
bile acid synthesis
chenodeoxycholic acid
sterol 27-hydroxylase

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

ClinicalTrials.gov processed this record on October 23, 2014