Mirum: Ctexli reduces cholesterol metabolite build-up in patients with cerebrotendinous xanthomatosis

1. Ctexli significantly reduced levels of two atypical cholesterol metabolites usually elevated in patients with cerebrotendinous xanthomatosis (CTX) compared to the placebo.

2. Common side effects of Ctexli included diarrhea and nausea.

The Latest

In the randomized phase-3 RESTORE trial, researchers observed that Ctexli significantly reduced levels of two atypical cholesterol metabolites usually elevated in patients with cerebrotendinous xanthomatosis (CTX) compared to the placebo. The most common side effects of patients treated with Ctexli included nausea and diarrhea and were mild to moderate in severity. Lastly, there is a risk of liver toxicity in patients with pre-existing liver disease or bile duct abnormalities while being treated with Ctexli, requiring frequent monitoring of liver blood tests.

Physician’s Perspective

Cerebrotendinous Xanthomatosis (CTX) is a genetic lipid storage disease affecting approximately 8.6 per 100,000 persons. CTX is caused by a genetic mutation in CYP27A1 that leads to deficiency in sterol 27-hydroxylase, an enzyme that helps breakdown cholesterol into chenodeoxycholic acid. Due to the deficiency in this enzyme and subsequent reduced levels of chenodeoxycholic acid, patients with CTX cannot break down cholesterol further leading to build-up of cholesterol metabolites which can damage the brain, liver, skin, and tendons. Patients usually experience onset of progressive diarrhea, cataracts, skeletal abnormalities, neurological symptoms (weakness, dizziness) and intellectual decline by their 20’s.

Molecular Target of Therapy

Ctexli works by replacing deficient levels of chenodeoxycholic acid, one of the bile acids that is deficient in patients with CTX. This helps to reduce abnormal deposits of cholesterol metabolites in different organs and the subsequent organ damage.

Company History

Mirum is an American biopharmaceutical company focused identifying therapeutics for rare liver and biliary diseases in children and adults. Mirum acquired Travere and Ctexli in 2023 for $445 million, with $210 million upfront and up to $235 million in potential sales-based milestones.  Chenodiol was first approved under the brand name Chenix in 1983 and reapproved as Chenodal in 2009 for the treatment of gallstones. Currently, Ctexli is the first FDA-approved treatment for CTX.

Further reading: https://www.businesswire.com/news/home/20231002522656/en/Mirum-Pharmaceuticals-Announces-Positive-Phase-3-RESTORE-Study-Results-Evaluating-Chenodal-in-Patients-with-Cerebrotendinous-Xanthomatosis

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