Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis

Effects of Diet and Medication in Patients With Cerebrotendinous Xanthomatosis (CTX)

OBJECTIVES: I. Assess the biosynthesis of cholesterol and cholestanol, and measure the turnover of individual sterols and bile acids in patients with cerebrotendinous xanthomatosis before and after a cholesterol- and cholestanol-free diet.

II. Assess the biosynthesis of cholesterol and cholestanol, and measure the turnover of individual sterols and bile acids in these patients before and after lovastatin and chenodeoxycholic acid.

PROTOCOL OUTLINE: Following a 2-week baseline assessment, patients participate in a feeding study for up to 3 weeks. The diet is free of cholesterol and cholestanol.

For the next 4 weeks, patients return to their typical diet and are medicated with daily lovastatin and chenodeoxycholic acid.

The feeding study is repeated for an additional 3 weeks, with the patient taking either lovastatin or chenodeoxycholic acid.

PROTOCOL ENTRY CRITERIA: Cerebrotendinous xanthomatosis