The U.S. Food and Drug Administration has granted approval to Mirum Pharmaceuticals’ new medication for treating adults with
cerebrotendinous xanthomatosis (CTX), a rare genetic condition that causes harmful fat deposits throughout the body’s organs.
The newly approved treatment, marketed under the name Ctexli, addresses a genetic mutation that impairs the body’s ability to produce an enzyme essential for cholesterol breakdown. Without proper treatment, individuals with CTX experience an accumulation of abnormal cholesterol metabolites, leading to progressive organ damage and neurological complications.
Mirum Pharmaceuticals acquired the rights to Ctexli through a strategic acquisition in 2023, purchasing Travere Therapeutics’ bile acid portfolio for $210 million. The medication, which is a synthetic version of chenodeoxycholic acid, was previously authorized for treating radiolucent gallstones.
Clinical evidence supporting the FDA’s approval came from a Phase 3 trial spanning 24 weeks, during which adult participants received 750 milligrams of Ctexli daily, divided into three doses. The study demonstrated that the treatment significantly reduced levels of plasma cholestanol and bile alcohols – toxic substances resulting from irregular cholesterol metabolism – compared to placebo results.
The FDA’s approved labeling includes important safety information, notably a warning about potential liver toxicity. Patients prescribed Ctexli must undergo liver function testing before beginning treatment and continue monitoring throughout their course of therapy. Additional reported side effects include headaches, digestive issues such as constipation and diarrhea, elevated blood pressure, muscle weakness, and upper respiratory infections.
Chris Peetz, CEO of Mirum Pharmaceuticals, expressed enthusiasm about the approval’s significance for CTX patients. “This approval represents a crucial advancement in our ability to identify and treat adult CTX patients in the United States,” he stated. “We’re optimistic that this will lead to earlier diagnosis and intervention, potentially preventing some of the severe symptoms associated with the condition.”
The company has integrated Ctexli into its existing patient support infrastructure to facilitate access to the medication. Regarding cost considerations, Mirum has indicated that Ctexli’s pricing will be comparable to the previous version of the drug used in gallstone treatment. The company has committed to making the treatment financially accessible, stating that most patients will face out-of-pocket costs of $10 or less.
This approval grants Mirum exclusive rights to market the drug for CTX treatment, marking a significant milestone in addressing this rare genetic disorder. The development represents a new treatment option for patients with CTX, who previously had limited therapeutic choices available to them.
The introduction of Ctexli adds to the growing arsenal of treatments for rare genetic disorders, demonstrating ongoing progress in addressing conditions that affect small patient populations. By providing a targeted therapy for CTX, the approval aligns with broader efforts to develop treatments for rare diseases that historically have had few therapeutic options.
The medication’s approval underscores the importance of continued research and development in the rare disease space, where treatments can significantly impact patients’ lives despite affecting relatively small populations. With this new treatment option, healthcare providers now have an FDA-approved therapy specifically designed to address the underlying metabolic disruption in CTX, potentially improving outcomes for affected individuals.