Barth Syndrome Foundation urgently appeals to FDA and Stealth BioTherapeutics to provide access to potential therapy

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In response to FDA’s request for additional clinical trials evaluating elamipretide in individuals with Barth syndrome, BSF rallies the patient community in a global advocacy campaign.

“Considering the significant loss of life within our community and that there are no other FDA-approved treatment options, it is absolutely critical that the agency truly incorporate the patient voice in their decision-making process."

Barth Syndrome Foundation (BSF) today announced a series of advocacy initiatives directed toward U.S. Food and Drug Administration (FDA) and Stealth BioTherapeutics requesting immediate access to the investigational drug elamipretide. Specifically, BSF and the Barth syndrome community are petitioning the drug developer to submit a new drug application (NDA) to FDA requesting approval of the investigational compound elamipretide in people with the ultra-rare and life-threatening disease Barth syndrome. “In the last 13 months alone, seven people with Barth syndrome in our community have died," says Emily Milligan, BSF Executive Director. “This represents nearly 3% of our worldwide living population. Every person with Barth syndrome deserves a chance.”

People with Barth syndrome who were enrolled in the elamipretide clinical trial and open-label extension period over the last three years showed positive changes in functional assessments such as fatigue, muscle strength, and endurance as well as improvements in some cardiac measures. One participant in the clinical trial stated that “I HAD Barth syndrome as I don’t live with the symptoms of Barth syndrome anymore.” Another described the benefit he experienced as life-changing; “I have energy to live now. I feel as if I had never understood before what it meant to live.”

Given the life-threatening nature of the disease and acceptable safety profile of elamipretide, the community is appealing to FDA to forgo the need for additional pre-approval studies and provide immediate access. “Considering the significant loss of life within our community and that there are no other FDA-approved treatment options, it is absolutely critical that the agency truly incorporate the patient voice in their decision-making process,” said Milligan. “We are asking FDA and Stealth BioTherapeutics to hear our voice and work together to provide access to elamipretide to people with Barth syndrome as soon as possible.”

Among BSF’s efforts is a petition signed by over 4200 supporters, accompanied by more than 730 written testimonials. This petition calls for “Stealth and FDA to address this issue with urgency by submitting and approving an NDA for elamipretide in Barth syndrome based on existing evidence from clicnial trials.” We also are aware that a letter from 26 Barth syndrome clinical specialists and key healthcare providers has been sent to the FDA advocating for the treatment. In part, the letter states “As physicians, we view the potential benefit afforded by elamipretide relative to the favorable safety profile exhibited to date as supporting a decision to make this drug immediately available to patients and prescribing physicians.”

FDA has repeatedly signaled the importance of incorporating the patient voice in drug development, including passage of the 21st Century Cures Act. This act requires sponsors to include, and FDA to consider, the patient perspective. Consequently, BSF has been actively engaging with FDA to raise awareness of the patient perspective in Barth syndrome in conjunction with the development of elamipretide over the last three years. Activities by BSF have included coordination of an externally led patient-focused drug development meeting in 2018, publication of the subsequent The Voice of the Patient: Barth Syndrome report and additional listening sessions with the community in 2019. Ongoing efforts in 2020 ensure that community members are informed, educated and have ample opportunity to share their experiences on living with Barth syndrome and their perspectives on risk-benefit considerations for potential therapies.

Disclosure: BSF has received sponsorship support for advocacy, clinical education and family-centered support programs from Stealth BioTherapeutics.

Barth Syndrome Foundation ( is the only global network of families, healthcare providers, and researchers solely driven by the mission to save lives through education, advances in treatment and finding a cure for Barth syndrome. BSF has funded nearly $5.6M USD since 2002 and catalyzed over $31.7M USD in funding from other agencies to advance global scientific discoveries to end the suffering and loss of life from Barth syndrome. Additionally, BSF provides a lifeline to families and individuals living with Barth syndrome around the world, offering individualized support, educational conferences, a robust patient registry and collaborations with specialist healthcare providers to define standards of care, treatment and rapid diagnosis.

Barth syndrome is a rare, life-threatening, genetic mitochondrial disorder primarily affecting males. Affected individuals may suffer from heart failure, muscle weakness, and infection (caused by neutropenia). Additional characteristics of the syndrome commonly include growth delay, impaired lipid metabolism, extreme fatigue and cardiolipin deficiency. In some individuals affected by Barth syndrome, the symptoms can be very severe, resulting in heart transplantation, potentially lethal infections, and death.

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