The U.S. Food and Drug Administration (FDA) is reviewing the first medication specifically developed for Barth syndrome, a rare and life-threatening genetic disorder. As reported by STAT, this medication could offer new hope for patients and families who historically have had no approved treatment options.
Barth syndrome is an ultra-rare inherited condition affecting primarily boys and young men. It is caused by mutations in the TAZ gene, leading to serious health issues such as heart muscle weakness (cardiomyopathy), muscle fatigue, growth delays, and a vulnerability to infections due to low levels of white blood cells. Management is limited to supportive care targeting individual symptoms, with no therapies available to address the underlying cause.
The drug in question, developed by Stealth BioTherapeutics, represents years of research and advocacy. It is designed to target the root mitochondrial dysfunction at the heart of Barth syndrome, aiming to improve energy production in cells and thereby alleviate the disorder’s most debilitating symptoms. Small-scale trials have demonstrated that the medicine could significantly enhance heart function and exercise capacity, while also improving quality of life for patients.
The FDA’s decision to “speed-review” the drug—with a decision expected to be made by September 26th—follows years of campaigning from patients, families, and advocacy groups who urged regulators and drugmakers to prioritize treatments for ultra-rare diseases. The approval process is being closely watched, as Barth syndrome affects only a few hundred people worldwide, making traditional large-scale clinical trials unfeasible. Regulators rely on flexible criteria and innovative study designs to evaluate the medication’s safety and efficacy, highlighting a growing willingness to adapt standards for diseases with high unmet need.
Stealth BioTherapeutics expressed gratitude for the collaboration between scientists, clinicians, patients, and advocacy organizations that have made this possible. The company noted that this decision by the FDA proves the value of patient advocacy and regulatory flexibility in driving forward treatments for rare conditions.
Patient groups hope for the FDA’s approval, a decision that would be life-changing. For families affected by Barth syndrome, the approval would offer not only a new therapeutic option but also validation of their years-long struggle for recognition and support. It would also set a precedent that could accelerate development and approval of treatments for other extremely rare disorders.
