Barth Syndrome

Barth syndrome is an ultra-rare mitochondrial disease which results in cardiac dysfunction, severe skeletal muscle weakness, immune issues and debilitating fatigue.

Our community is a prime example of the life-threatening Barth syndrome disease grappling with the FDA’s insufficient and inconsistent use of the flexibility granted by Congress to review clinical trial data for severe diseases that affect very few patients. This is a systemic problem affecting all who seek treatments for ultra-rare diseases.

Therefore, we are asking for a fair, equitable and appropriate review of an investigational drug, called elamipretide, by the FDA before patients lose access to this drug. It is the only medicine currently in late-stage development for our life-threatening, ultra-rare disease.

Please help us ask the FDA to incorporate the patients’ perspective and fully review all the data now!