WASHINGTON, D.C. — The U.S. Food and Drug Administration (FDA) has announced its recent approval of Ctexli (chenodiol), marking the first-ever treatment for cerebrotendinous xanthomatosis (CTX), a rare and debilitating lipid storage disease. This milestone offers a crucial therapeutic option for adult patients impacted by this progressive metabolic disorder.
CTX stems from a genetic mutation in the CYP27A1 gene, resulting in a deficiency of an enzyme essential for lipid breakdown. This deficiency disrupts bile acid production in the liver, preventing normal cholesterol metabolism and leading to abnormal deposits of cholesterol byproducts in the brain, liver, tendons, and other tissues, ultimately causing multi-systemic damage.
Ctexli addresses this deficiency by replenishing a specific bile acid, reducing the harmful buildup of cholesterol metabolites believed to contribute to CTX’s clinical complications.
The FDA evaluated Ctexli’s efficacy in a 24-week, double-blind, placebo-controlled, randomized crossover withdrawal trial involving adult patients. Administered at a dose of 250 milligrams three times daily, the treatment demonstrated significant reductions in plasma cholestanol and urinary 23S-pentol—key biomarkers elevated in CTX patients.
While offering an effective solution for CTX, Ctexli’s prescribing information highlights safety precautions, including warnings for the potential risk of liver toxicity. Regular liver function monitoring is recommended, alongside immediate medical attention if symptoms such as abdominal pain, fatigue, yellowing skin, or other toxic signs arise. Common side effects include gastrointestinal symptoms, headache, muscle weakness, and upper respiratory infections.
Ctexli was granted multiple priority designations by the FDA, including Priority Review, Fast Track, and Orphan Drug, underscoring the agency’s commitment to addressing rare conditions.
Mirum Pharmaceuticals Inc., the recipient of this approval, now delivers a pivotal option in the previously unmet treatment landscape for CTX.
This landmark approval represents a significant advancement for CTX patients, offering new hope for improved management of this severe condition. Looking ahead, ongoing monitoring and emerging innovations could further refine treatment outcomes for those living with rare metabolic disorders.
For the latest news on everything happening in Chester County and the surrounding area, be sure to follow MyChesCo on Google News and MSN.