P142: Efficacy, Safety and Tolerability of Chenodeoxycholic Acid in Adult Patients with Cerebrotendinous Xanthomatosis (RESTORE): A Randomized, Placebo-Controlled Phase 3 Study*

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disorder of lipid-storage and bile acid synthesis caused by biallelic pathogenic variants in the CYP27A1 gene, which encodes the sterol 27-hydroxylase enzyme. Defects in sterol 27-hydroxylase lead to abnormal bile acid synthesis and toxic accumulation of cholestanol, bile alcohols and other metabolites in the body resulting in complications such as cholestasis, cataracts, tendon xanthomas, ataxia, neuropathy and psychiatric disturbances.