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
Details
Lead Sponsor:
US Department of Veterans Affairs VA Office of Research and Development