Leading Patient Advocacy Organization Urges FDA to Approve Elamipretide as Critical Treatment for Life-Threatening Disease
BOSTON (October 7, 2024) – The Barth Syndrome Foundation (BSF), the only patient advocacy organization solely dedicated to Barth syndrome and saving lives around the world through education, advances in treatments and finding a cure, is urging the U.S. Food and Drug Administration (FDA) to approve elamipretide, the first potential therapy for Barth syndrome. The agency’s Cardiovascular and Renal Drugs Advisory Committee is scheduled to review and provide feedback to the FDA related to the New Drug Application (NDA) for elamipretide on October 10.
“After almost a decade of research, clinical trials, and countless FDA meetings, elamipretide has proven to significantly improve muscle strength, heart function, and quality of life for those with our ultra-rare disease,” said BSF Executive Director Emily Milligan, MPH. “In the meantime, over 10% of the global Barth syndrome patient population has died. We have been asking the FDA for a fair, equitable, and appropriate review of the data that demonstrate this drug works. If regulators take those steps, we cannot see any outcome other than the FDA approving elamipretide, giving patients and their families the life- saving chance they desperately need and deserve. We especially look forward to the Open Public Hearing portion of the AdComm when our affected individuals and their family members will have the opportunity to share the meaningful ways in which elamipretide has changed their lives for the better.”
Barth syndrome is an ultra-rare, life-threatening genetic disorder primarily affecting males. There are no FDA-approved treatments and no other therapies in late-stage clinical development. Studies show elamipretide can boost muscle strength by 45% and heart function by 40%. Half of all patients from the original trial continue to take and benefit from this therapy almost seven years after initiating treatment, and for many, it is their only hope for survival.
More information on the advisory committee meeting is available from the FDA here.
What others are saying
Dr. Philip Yeske, interim managing director and Science & Alliance officer, United Mitochondrial Disease Foundation, said, “As of today, there are no FDA-approved therapies for mitochondrial diseases. This highlights the extreme unmet medical need in our community. Elamipretide has shown promise in addressing the underlying mitochondrial dysfunction specific to Barth syndrome. This is crucial for the Barth syndrome community, where nuanced biological and clinical factors make targeted treatments a lifeline. The potential for therapies to improve muscle strength, cardiac function, and overall energy production in patients with Barth syndrome offers renewed hope for patients and families. While mitochondrial diseases are rare, the human impact is vast. All patients living with mitochondrial disorders deserve the chance to benefit from modern medical advances, and the Barth syndrome community is no exception. On behalf of UMDF, I respectfully ask you to support the approval of elamipretide for use in Barth syndrome.”
Kira Mann, chief executive officer, MitoAction, said, “We hear from patients and caregivers every day who are grappling with the daily hardships caused by mitochondrial diseases. Many of those with Barth syndrome are unable to participate in activities that most of us take for granted due to severe energy deficits. The approval of elamipretide would mark a critical turning point for these patients and their families, providing not only physical improvements but also emotional relief, knowing that they finally have access to a therapy that could improve their quality of life. We urge you to consider the profound impact that elamipretide could have on the mitochondrial disease community, and specifically for patients living with Barth syndrome.”
Brian Tseng MD, PhD, chief scientific officer, the PolG Foundation, said, “Elamipretide has shown promise in addressing the underlying mitochondrial dysfunction specific to Barth syndrome. This is crucial for the Barth syndrome community as improved muscle strength, cardiac function, and overall energy production offers meaningful benefit for patients and families. Your careful consideration of the available evidence and favorable recommendation will make a monumental difference in the lives of these individuals...All patients living with mitochondrial disorders deserve the chance to benefit from modern medical advances, and the Barth syndrome community is no exception. On behalf of TPF, I respectfully ask you to support the approval of elamipretide for use in Barth syndrome.”
Lisa Yue, founder and board president, Children’s Cardiomyopathy Foundation, said, “Currently, pediatric cardiomyopathy is estimated to impact 30,000 children in the United States, with thousands more undiagnosed. For those affected by the mitochondrial form of the disease, treatment options are particularly scarce, and families are left with a huge unmet medical need. Research has shown that elamipretide has the potential to address the root cause of these mitochondrial defects, thereby improving heart function in affected children. The potential of this drug aligns with CCF’s mission to provide families and children with access to effective treatments and reduce the severity of cardiomyopathy’s life- threatening consequences. The FDA’s approval of elamipretide could lead to a breakthrough in the treatment of mitochondrial- related cardiomyopathy and represent a significant leap forward for addressing children’s heart diseases and saving lives. We respectfully urge you to support elamipretide’s approval.”
Jaclyn Leit, chair of the Patient Advisory Council of the United Mitochondrial Disease Foundation, said, “As caregivers to mitochondrial disease parents – or parents ourselves, we each know firsthand the devastating impact of this disease. We have seen the consequences of how diseases like Barth Syndrome wreak havoc on the parts of the body that need the most energy like the heart, brain, and muscles. This community deserves access to any therapy proven safe that could improve function and perhaps even extend lives. We believe all evidence shows that for Barth syndrome, elamipretide fits this description.”
###
About Barth Syndrome Foundation (BSF)
Barth Syndrome Foundation and our international affiliates comprise the only global network of families, healthcare providers, and researchers solely driven by the mission to save lives through education, advances in treatments and finding a cure for Barth syndrome. Considered a role model in rare disease advocacy, BSF has funded $6.6M USD and catalyzed over $37.7M USD in funding from other sources 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 patient registry and collaborations with specialist healthcare providers to define standards of care, treatment and rapid diagnosis.
