FDA approves ctexli for cerebrotendinous xanthomatosis: a long-awaited breakthrough

Le résumé fourni par la source

Abstract In February 2025, the Food and Drug Administration (FDA) approved Ctexli (chenodiol) for cerebrotendinous xanthomatosis (CTX), a rare inborn bile acid metabolism disorder, with limited treatment options. CTX results from mutations in the CYP27A1 gene that impair bile acid synthesis and the harmful buildup of cholestanol in significant tissues, leading to severe neurological and systemic symptoms. Ctexli provides exogenous chenodeoxycholic acid (CDCA), which inhibits 7α-hydroxylase and reduces cholestanol levels in the tissues. Clinical trials have demonstrated that this drug improves bile acid synthesis and patients’ quality of life. CDCA has been authorized in Europe since 2017 (CDCA-Leadiant). The recent FDA approval of Ctexli marks a significant advancement in CTX treatment within the United States, offering new hope to patients and their families. Nevertheless, experience from Europe indicates that high pricing and reimbursement challenges may continue to affect real-world accessibility for patients.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.