Mirum Pharmaceuticals, Inc. (Nasdaq: MIRM) has announced the submission of a new drug application (NDA) to the U.S. Food and Drug Administration (FDA) for chenodiol, intended to treat patients with cerebrotendinous xanthomatosis (CTX).
CTX is a rare, progressive genetic disorder affecting cholesterol metabolism, leading to a buildup of bile alcohols and cholestanol. This toxic accumulation causes severe symptoms, including chronic diarrhea, juvenile bilateral cataracts, tendon xanthomas, and neurological deterioration. Without treatment, CTX can result in irreversible neurological damage and significant disruption to patients’ lives.
The NDA submission is supported by positive Phase 3 RESTORE study results, which evaluated chenodiol in adult CTX patients. The study achieved its primary endpoint, demonstrating a significant reduction in bile alcohols with high statistical significance (p<0.0001). At the end of the randomized double-blind withdrawal period, there was a 20-fold difference between the placebo and chenodiol groups. Additionally, chenodiol treatment significantly improved serum cholestanol levels. The most common adverse events reported were diarrhea and headache, mostly mild to moderate and not 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, CEO of 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.”
Jean Pickford, Executive Director of the CTX Alliance, emphasized the importance of timely diagnosis and treatment for CTX patients. “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.”
If approved, chenodiol could offer a crucial treatment option for those suffering from CTX, potentially transforming the management of this debilitating condition.