A rare disease gets a breakthrough: Ctexli approved for cerebrotendinous xanthomatosis

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid storage disorder caused by mutations in the CYP27A1 gene, leading to sterol 27-hydroxylase deficiency and cholestanol accumulation. Ctexli’s features range from infantile diarrhea to adult-onset neurodegeneration. Early diagnosis and treatment with chenodeoxycholic acid (CDCA) can significantly improve outcomes. Recently, the FDA approved Ctexli (chenodiol), a synthetic form of CDCA, as the first standardized treatment for CTX. Clinical trials demonstrated its efficacy in reducing plasma cholestanol and urinary bile alcohols. Ctexli’s approval represents a significant advancement, enabling more consistent therapy and highlighting the importance of early intervention in managing CTX