Cholestanol in Humans

Not Applicable

Withdrawn

• Conditions: Cerebrotendinous Xanthomatosis
• Interventions: Drug: Chenodeoxycholic Acid

• Registration Number: NCT00018694
• Lead Sponsor: US Department of Veterans Affairs

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.

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 Timeline

• Study Start: 1999-10
• Study First Submitted: 2001-07-03
• Study First Submitted QC: 2001-07-04
• Study First Posted: 2001-07-05
• Primary Completion: 2009-12
• Study Completion: 2009-12
• Status Verified: 2013-10
• Last Update Submitted: 2013-10-11
• Last Update Posted: 2013-10-14

Recruitment & Eligibility

• Status: WITHDRAWN
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

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

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Arm 1	Chenodeoxycholic Acid	-

Trial Locations

Locations (1)

VA New Jersey Health Care System, East Orange; 🇺🇸 East Orange, New Jersey, United States