FDA Approves First Treatment for Rare Mitochondrial Disease Barth Syndrome

The U.S. Food and Drug Administration (FDA) has granted accelerated approval to Forzinity (elamipretide) injection, marking the first-ever approved treatment for Barth syndrome, a rare and life-threatening disorder caused by mitochondrial dysfunction. Barth syndrome affects a small number of patients and is characterized by severe muscle weakness, cardiac issues, and growth delays. The new therapy, Forzinity, works by binding to the inner membrane of mitochondria, thereby enhancing their structure and function, which is crucial in combating the disease.

Administered through a once-daily subcutaneous injection, Forzinity has shown promising results in improving the strength of leg muscles, specifically those used for knee extension. This improvement is considered a potential predictor of broader benefits for patients, such as easier standing and increased walking ability. Although the approval is based on these muscle strength improvements, the FDA requires further randomized, double-blind, placebo-controlled trials to confirm that these changes translate into tangible patient benefits.

The most common side effects reported during clinical trials were mild-to-moderate reactions at the injection site; however, some serious reactions were also observed. The FDA emphasized its commitment to supporting the development of safe and effective treatments for rare diseases, with George Tidmarsh, M.D., Ph.D., highlighting the agency’s ongoing efforts to ensure access to innovative therapies for patients with such conditions.

The approval was granted to Stealth Biotherapeutics, the developer of Forzinity, and represents a significant step forward in the management of Barth syndrome. This development offers new hope to patients and families affected by this challenging condition.

For more details, visit source.