Cholestanol in Humans

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.

Timeline

Start

1999-10

Primary completion

2009-12

Completion

2009-12

Drugs

Indications