Mirum Pharmaceuticals, today announced the submission of a new drug application (NDA) for chenodiol for the treatment of patients in the U.S. with cerebrotendinous xanthomatosis (CTX).
CTX is a rare autosomal genetic progressive disorder of cholesterol metabolism that affects many parts of the body. In CTX, a deficiency of the bile acid CDCA leads to a buildup of bile alcohols which precedes a toxic accumulation of cholestanol. Cholestanol is the key driver of symptomatic burden and disease progression, including irreversible neurologic dysfunction.
If not treated, patients with CTX can experience symptoms that disrupt their lives and can progress over time, including chronic diarrhea, juvenile bilateral cataracts, tendon xanthomas, and neurologic deterioration.
The submission of the NDA is based on the positive results of the Phase 3 RESTORE study which evaluated chenodiol in adult patients with CTX. The study met its primary endpoint of reduction in bile alcohols with high statistical significance (p<0.0001).
The difference observed between placebo and active chenodiol at the end of the randomized double-blind withdrawal period was 20-fold. The RESTORE study also demonstrated that treatment with chenodiol significantly improved serum cholestanol. The most common adverse events were diarrhea and headache, the majority of which were mild or moderate and not considered to be treatment related.
“Following the landmark RESTORE data, we are excited about the potential to have an approved treatment option that may reduce the progressive symptoms associated with this rare disease,” said Chris Peetz, chief executive officer at Mirum. “If approved, chenodiol would be the first and only medication approved to treat patients with CTX, enabling earlier diagnosis and treatment of these life-altering symptoms.”
“When you have CTX, timely diagnosis and treatment can have a transformative impact on the lives of people living with this disease,” said Jean Pickford, executive director, CTX Alliance. “We were excited about the RESTORE data and are hopeful that the chenodiol submission to the FDA will result in an approval, enabling faster access to treatment and helping patients and their families earlier in their disease journey.”
