Barth Syndrome Treatment

Why Your Voice Matters

The Barth Syndrome Foundation is an important step to help us ask the FDA to incorporate the patients' perspective and fully review all the data now.

Henry’s Story

Henry is a young boy with a rare, life-threatening disease called Barth syndrome. Many people with Barth syndrome pass away by his age.

Your voice matters for kids like Henry. This is where the Barth Syndrome Foundation can help.

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Why Your Advocacy for Barth Syndrome Matters?

A clinical trial for the first-ever potential drug for Barth syndrome, called elamipretide, began over five years ago.

Importantly, this drug has been tested in >1,000 people in clinical trials and appears to be tolerated well by people who’ve been tested.

In the first trial, the treatment did not show statistically significant results. We believe this may be attributed to the brevity of the time frame (3 months) and the limited number of participants (n = 12, representing 10% of all identified individuals with Barth syndrome in the US). With long-term therapy in an extension period, improvements in exercise tolerance (>25% from the start of the study), muscle strength (>45% from the start of the study), and heart function (>40% from the start of the study) were seen.

A Barth Syndrome Treatment is in Reach

Comparisons to the natural history of the disease in another clinical trial showed that these changes are not expected in the ordinary course of the disease. And yet, the FDA has refused to fully review a new drug application.

Through the Barth Syndrome Foundation, please help us ask the FDA to incorporate the patients’ perspective and fully review all the data now!

Barth syndrome treatment

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

Together, let’s tell the FDA we are Not too rare to care.


Why does the community voice matter? Why don’t the data “speak for themselves”?

For more common diseases, FDA frequently requests additional clinical studies to confirm the benefits suggested by an initial clinical study. In ultra-rare diseases, additional studies are often not possible due to a lack of patients. Because of this, FDA is empowered to make certain judgment calls, based on data, in rare diseases – but they are very inconsistent in which data they consider supportive of regulatory approval. The FDA is refusing to exercise the authority they have been given by Congress for fair and equitable review of a new drug application for elamipretide in Barth syndrome. We believe the data supporting the safety and efficacy of elamipretide as a therapy for Barth syndrome is compelling. And so do our trusted Barth syndrome experts. We just want the FDA to exercise fair and appropriate review of that data when making a decision.

How can I get involved?

We are asking all Barth syndrome community members and advocates to get involved. Here are two ways you can take action.

  1. Using a formatted letter, write to the FDA and voice your support. Be sure to share the letter writing campaign on your social media channels as well!
  2. Share your family’s story by creating a video here 

What will happen if the FDA doesn’t review this therapy?

After a lengthy regulatory journey involving four different FDA divisions and conflicting feedback on a path forward, Stealth BioTherapeutics will be asking the FDA once again to review the elamipretide data. This is the last chance for the therapy to be approved for our Barth syndrome community in the United States.

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The Barth Syndrome Community Needs Action Now

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We Need a Fair Review