FDA Approves First Drug for Rare Lipid Storage Disorder

The FDA on Friday approved chenodiol (Ctexli) for the treatment of cerebrotendinous xanthomatosis (CTX) in adults.

Chenodiol — a naturally occurring human bile acid also known as chenodeoxycholic acid — is the first FDA-approved drug indicated for the rare lipid storage disease and autosomal recessive genetic metabolic disorder, the agency said.

The disorder is characterized by reduced bile acid production in the liver, which leads to abnormal breakdown of cholesterol. The disease results in atypical cholesterol metabolites being deposited in various organs and tissues. CTX can lead to symptoms such as diarrhea, cataracts, tendon xanthomas, seizures, cognitive impairment, difficulties with coordination and balance, and premature atherosclerosis.

“CTX is a progressive multisystemic disorder that significantly impacts patients and previously lacked approved treatments. Today’s approval provides a safe and effective treatment option for CTX,” Janet Maynard, MD, MHS, director of the Office of Rare Diseases, Pediatrics, Urologic, and Reproductive Medicine at FDA’s Center for Drug Evaluation and Research, said in a statement.

Notably, the bile acid product is not new to the U.S. market. Chenodeoxycholic acid was approved in the 1980s, initially marketed as Chenix, and has been used off-label for people with CTX for the past few decades.

Chenodiol tablets work to replace the deficient bile acid and prevent the abnormal deposits of cholesterol metabolites that are blamed for the various clinical symptoms. A double-blind randomized trial had found that chenodiol successfully reduced plasma cholestanol and urine 23S-pentol compared to placebo after 24 weeks, the FDA noted.

Common adverse events in studies included diarrhea, headache, abdominal pain and constipation, hypertension, muscular weakness, and respiratory tract infections.

The recommended dose for chenodiol is 250 mg three times per day.

According to the drug label, users should be warned of the risk of liver toxicity, 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 and annually and as clinically indicated while on treatment. Those with persistent or recurrent liver test abnormalities may consider discontinuing chenodiol.

Additionally, individuals on bile acid sequestering agents and aluminum-based antacids are advised to avoid concomitant use of chenodiol. Those on coumarin derivatives like warfarin should monitor prothrombin time and adjust dosage accordingly.

Please enable JavaScript to view the

comments powered by Disqus.