Adults with cerebrotendinous xanthomatosis (CTX) can now be treated with Ctexli (chenodiol), which is approved by the US Food and Drug Administration. Also, it's The first FDA-approved medication for CTX, a relatively rare lipid storage condition.
A mutation in the CYP27A1 gene causes CTX, a genetic metabolic condition that results in a lack of the enzyme necessary for the body to break down lipids. The inability of patients with CTX to break down cholesterol normally due to decreased bile acid production in the liver causes atypical cholesterol metabolites—substances that arise from the breakdown of cholesterol—to accumulate in different parts of the body, such as the liver, brain, skin, and tendons, causing damage to those organs and tissues. By replenishing low levels of one of the bile acids, Ctexli reduces the aberrant accumulations of cholesterol metabolites that are assumed to be the cause of clinical abnormalities in CTX.
The efficacy of Ctexli for the treatment of patients with CTX was evaluated in a double-blind, placebo controlled, randomized crossover withdrawal trial. The 24-week trial demonstrated that treatment with Ctexli, 250 milligrams three times per day, resulted in significant reduction in plasma cholestanol and urine 23S-pentol (cholesterol metabolites that are markedly increased in CTX patients) compared to placebo treatment. The FDA granted Ctexli Priority Review, Fast Track and Orphan Drug designations for this application.The recommended dosage is 250 milligrams, taken orally three times a day.
The prescribing information for Ctexli includes a warning for liver toxicity in all patients with increased risk for liver damage in patients with pre-existing liver disease or bile duct abnormalities. Patients should obtain liver blood tests before starting treatment, annually while on treatment and as clinically indicated. If signs of liver toxicity (e.g., stomach pain, nausea, fatigue, dark urine, bruising, yellowing of the eyes and skin, itching) occur, patients are advised to see their doctor and discontinue Ctexli. The most common side effects of Ctexli are diarrhea, headache, abdominal pain, constipation, hypertension, muscular weakness and upper respiratory tract infection.
Learn more: FDA Approves First Treatment for Cerebrotendinous Xanthomatosis, a Rare Lipid Storage Disease | FDA
