The U.S. Food and Drug Administration (FDA) has approved Ctexli, a groundbreaking pill for adults suffering from cerebrotendinous xanthomatosis (CTX), a rare genetic disorder. This approval marks a significant milestone, as Ctexli becomes the first drug sanctioned for CTX, offering hope to those affected by the disease. The approval, granted to Mirum Pharmaceuticals, came on February 24, 2025.
CTX is characterized by an inability to properly manage cholesterol due to a mutation in the CYP27A1 gene. This defect leads to the absence of an enzyme essential for the metabolism of cholesterol, causing fatty deposits known as xanthomas to develop in various parts of the body including the brain, liver, skin, and tendons. The newly approved treatment, Ctexli, contains chenodiol (chenodeoxycholic acid), a natural bile acid that compensates for the bile acid deficiency in CTX patients.
The efficacy of Ctexli was established through a 24-week clinical trial involving participants aged 16 to 55. The trial was a double-blind study where subjects received either 250 mg of Ctexli thrice daily or a placebo. Results from the trial demonstrated that Ctexli significantly diminished harmful cholesterol breakdown products in those with CTX. As an oral medication, the FDA advises patients to take 250 mg tablets three times a day.
However, Ctexli is not without potential side effects. It may pose risks to liver health, particularly in individuals with pre-existing liver conditions or bile duct issues. Patients are urged to seek medical attention if they experience symptoms such as abdominal pain, nausea, fatigue, dark urine, bruising, jaundice, or itching. These symptoms could indicate serious liver problems needing immediate intervention.
Ctexli's mechanism of action involves restoring the missing bile acid in patients with CTX, thereby reducing the production of harmful cholesterol byproducts. This novel approach provides a much-needed therapeutic option for managing this challenging disorder.
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