Cholestanol in Humans

• Status: Withdrawn
• Trial end date: 2009-12-01
• Target enrollment: 0
• Participant gender: All

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.

• Phase: N/A
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: US Department of Veterans Affairs; VA Office of Research and Development
• Treatments: Chenodeoxycholic Acid

Criteria

Inclusion Criteria:

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

Exclusion Criteria: