Cholestanol in Humans

Cerebrotendinous Xanthomatosis Clinical Trial

Official title:

Biologic Significance of Cholestanol in Man

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT00018694
• Other study ID #: GAST-007-99S
• Status: Withdrawn
• Phase: N/A
• First received: July 3, 2001
• Last updated: October 11, 2013
• Start date: October 1999
• Est. completion date: December 2009

Study information

• Verified date: October 2013
• Source: VA Office of Research and Development
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal GovernmentUnited States: Food and Drug Administration
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. completion date: December 2009
• Est. primary completion date: December 2009
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 5 Years to 80 Years

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

Study Design

Allocation: Non-Randomized, Masking: Open Label

Related Conditions & MeSH terms

• Cerebrotendinous Xanthomatosis
• Xanthomatosis, Cerebrotendinous

Intervention

Drug:
• Chenodeoxycholic Acid

Locations

Country	Name	City	State
United States	VA New Jersey Health Care System, East Orange	East Orange	New Jersey

Sponsors (1)

Lead Sponsor	Collaborator
VA Office of Research and Development

Country where clinical trial is conducted

United States,