My name is Shelley Bowen, and I am the Director of Family Services for the Barth Syndrome Foundation, representing families worldwide who suffer from a devastating, ultra-rare condition called Barth syndrome. I lost my two sons to this cruel disease, so I know first-hand what this horrible disease can do. Our community is a prime example of an ultra-rare disease that is struggling over the lack of appropriate and consistent use of the flexibility granted to the FDA 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.  

Stealth BioTherapeutics began a clinical trial for the first-ever potential drug for Barth syndrome, called elamipretide, over five years ago. Very importantly, this drug is known to be safe. The treatment showed positive results in the initial trial period and multiple statistically significant improvements during the extension period of the study. Follow-on analysis also showed very positive cardiac improvements that defied the disease's natural history. And yet, the FDA has refused to fully review a new drug application. 

Our affected individuals are dying all too young and all too often, and there are no approved therapies for our disease. They need treatments! 

Below is one case study that further supports the very positive benefits of this drug:

Declan is a wonderful baby who has Barth syndrome. At eleven months old, he was admitted to a pediatric intensive care unit in acute heart failure that was so life-threatening that he was placed on a ventricular assist device (a machine that helped pump blood for his failing heart), and he was listed for a heart transplant.

Declan’s genetic testing revealed that he has Barth syndrome, an ultra-rare mitochondrial disease which results in cardiac dysfunction, severe skeletal muscle weakness, immune issues and debilitating fatigue. His doctors suggested his family consider an experimental drug, elamipretide, which had been tested in Barth syndrome clinical trials but was not yet approved by the FDA.  

Less than three months after starting elamipretide, Declan’s heart structure and function improved more than doctors ever expected. Declan also regained strength and energy. Now, after eight months on this treatment, Declan has had the ventricular assist device removed (without requiring a heart transplant), and he was recently discharged from the hospital. His doctors said that they are not aware of any other patient with Barth syndrome who was able to transition off a ventricular assist device without requiring a heart transplant. His doctors credit elamipretide with making the difference. 

As we all celebrate Declan’s prospect of a better life, we are distressed that his access to elamipretide may be in jeopardy. If this elamipretide program is discontinued, access to the drug will be denied to Declan and the other Barth syndrome patients who were in the trial and are still taking the drug. Like Declan’s parents, our community worries that this will be disastrous for the health, strength, energy, happiness, and maybe even lives of all those affected by Barth syndrome.

In 2021, the FDA refused to file the new drug application for elamipretide. Several meetings have been held in which patients have voiced their strong desire to be able to try this drug, and much additional evidence has been presented demonstrating that this treatment is safe and delivers very meaningful benefits to Barth syndrome patients. And yet, the FDA still refuses to consider it for approval.

Congress has authorized the FDA to use flexibility in these cases where there are so few patients who can participate in trials. But there is real inconsistency in the actual use of this authority, and so far, the FDA has refused to exercise this flexibility for Barth syndrome. 

Those with Barth syndrome, like Declan, deserve more from the FDA! We are asking for a fair, equitable and appropriate review of elamipretide in Barth syndrome by the FDA before we lose access to this drug, the only medicine currently in development for our life-threatening, ultra-rare disease.  

On behalf of Declan, and the entire Barth Syndrome Foundation community, please help us ask the FDA to incorporate the patients' perspective and fully review all the data now!