The U.S. Food and Drug Administration (FDA) has approved Ctexli (chenodiol) for the treatment of cerebrotendinous xanthomatosis (CTX) in adults.
CTX is a rare lipid storage disease characterized by the inability to break down certain lipids effectively. As a result, xanthomas accumulate in the body, especially in the brain and the tendons. Symptoms may include diarrhea, cataracts, tendon problems, and progressive neurologic problems, such as epilepsy, movement disorders, dysarthria, peripheral neuropathy, dementia, hallucinations, and depression. Other symptoms may include osteoporosis and an increased risk of developing heart or lung failure. It is caused by genetic changes in the CYP27A1 gene.
Chenodiol has been developed to replace deficient levels of bile acids, reducing cholesterol deposits responsible for symptoms of this disorder. The treatment’s efficacy was evaluated in a double-blind, placebo controlled, randomized, crossover withdrawal clinical trial. Throughout the 24-week period, treatment with chenodiol at 250 mg three times per day resulted in significant reduction in plasma cholestanol and urine 23S-pentol when compared to placebo treatment.
Chenodiol makes history as the first FDA approved treatment for CTX.
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To learn more about CTX and other rare metabolic disorders, visit https://checkrare.com/diseases/metabolic-disorders/