PRESS RELEASE: FDA Approves First Treatment for Cerebrotendinous Xanthomatosis, a Rare Lipid Storage Disease
The U.S. Food and Drug Administration (FDA) has approved Ctexli (chenodiol) as the first treatment for cerebrotendinous xanthomatosis (CTX), a rare lipid storage disorder. CTX is a genetic condition caused by mutations in the CYP27A1 gene, leading to improper cholesterol breakdown and accumulation of harmful metabolites in various body tissues, including the brain, liver, skin, and tendons. This buildup results in progressive damage to these organs.
Ctexli functions by supplementing deficient bile acids, thereby reducing the abnormal cholesterol deposits associated with CTX. Its efficacy was demonstrated in a 24-week, double-blind, placebo-controlled trial, where patients receiving Ctexli experienced significant reductions in plasma cholestanol and urine 23S-pentol levels—key markers elevated in CTX patients.
While Ctexli offers a promising treatment option, it carries a warning for potential liver toxicity, especially in individuals with pre-existing liver conditions or bile duct abnormalities. Healthcare providers are advised to conduct liver function tests prior to initiating therapy, annually during treatment, and as clinically indicated.
This approval marks a significant advancement for CTX patients, providing a dedicated therapy for a condition that previously lacked FDA-approved treatments.
The approval of Ctexli was granted to Mirum Pharmaceuticals Inc.
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