FDA Delays Drug Application for Barth Syndrome, Leaving Families Waiting

The FDA’s recent rejection of a drug designed to treat Barth Syndrome has left a Bay Area family frustrated. This rare genetic disorder primarily affects males and currently lacks approved therapies, leaving families in a holding pattern for potentially life-changing treatments.

A Family’s Battle

Megan Branagh, whose son Henry has Barth Syndrome, expressed disappointment over the application delay. The disorder, which affects about 150 people nationwide, impacts the heart and muscles. Henry, diagnosed at three months old, copes with symptoms through management rather than a cure.

“There’s no treatment or cure for it at all, just simply symptom management,”

—Megan Branagh

The drug, elamipretide, targets a mitochondrial molecule crucial to the gene defect, but its approval has been stalled. The FDA requested more data before making a decision.

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Hope and Challenges

Henry Branagh, now 13, manages his condition with daily medication and regular doctor visits. Despite these challenges, he enjoys sports like baseball and soccer.

“It’d be really nice for me to have it too, because my wish is to like live one day be normal without having Barth Syndrome,”

—Henry Branagh

Dr. Hitenda Patel, the family cardiologist, views the FDA’s decision as a request for further data. He notes that rare diseases often face hurdles in drug approval, particularly in pediatric cases. The FDA’s approach is vital to ensure patient safety. According to the National Organization for Rare Disorders, only 10% of people living with rare diseases have access to an FDA-approved treatment (NORD 2024).

Looking Ahead

Megan Branagh emphasizes the importance of advocacy and support, a sentiment echoed by her son, who finds inspiration in his parents’ support. The family continues their fundraising efforts through Happy Heart Week, raising funds for the Barth Syndrome Foundation.

Stealth BioTherapeutics is working with the FDA for drug approval. The Branaghs are committed to fighting for Henry’s health and will not give up.