UMDF celebrates historic milestone for rare disease community
The United Mitochondrial Disease Foundation (UMDF), the largest mitochondrial disease-focused patient advocacy group in the United States, celebrates today’s U.S. Food and Drug Administration’s approval of elamipretide (now trademarked as Forzinity) for use in Barth syndrome patients, making it the first form of mitochondrial disease with an FDA-approved therapy.
Said UMDF President & CEO Kristen Clifford:
“Today’s approval represents a historic breakthrough for the Barth syndrome community and for every family affected by mitochondrial disease. For decades, families have been told there is little that can be done. Now, for the first time, we have an FDA-approved therapy that addresses the root cause of a mitochondrial disease.
Together, as a united community, we have accomplished what would have seemed unthinkable when this organization was founded in 1996. It is only through generations of selfless patients and families who shared their stories, participated in clinical trials, advocated to legislators, and funded research– along with a passionate group of researchers and clinicians who answered the call – that we find ourselves here today.
And while this therapy’s approval is unfortunately limited to a small subset of one of the many variations of mitochondrial disease, UMDF is committed to fighting until all mitochondrial disease patients have access to an effective therapy, and ultimately, a cure.
We thank the FDA for listening to this community and quickly evaluating this resubmission. We look forward to working hand-in-hand with the Barth Syndrome Foundation, Stealth BioTherapeutics, clinicians, healthcare systems, public and private insurers to ensure access to elamipretide and to support families navigating this new treatment option.”
Barth syndrome is an ultra-rare form of mitochondrial disease associated with heart problems, muscle weakness, delayed growth, chronic fatigue, and low levels of white blood cells that fight off infection. The disease’s incidence rates are estimated to be between 1 in 300,000 to 400,000. It primarily impacts males.
Elamipretide is thought to work by selectively targeting and stabilizing a key mitochondrial lipid called cardiolipin, which plays a crucial role in maintaining mitochondrial structure and function. Beyond today’s approval, elamipretide has also been tested in hundreds of mitochondrial disease patients diagnosed with Primary Mitochondrial Myopathy, including a phase 3 clinical trial (NuPower) exploring efficacy for nuclear DNA-related primary mitochondrial disease (PMD).
“Given this success, we are hopeful Stealth will move thoughtfully and expeditiously to submit NuPower results for FDA consideration,” said Clifford. She estimated such an approval could impact “thousands” of mitochondrial disease patients.
UMDF VOICES REFLECT ON THE IMPORTANCE OF TODAY’S APPROVAL:
“When I lost my daughter to mitochondrial disease twenty years ago, a therapy seemed out of reach. That’s ultimately why I joined UMDF, first as a board member, then as Science & Alliance Officer – to ensure families didn’t have to experience the heartbreak my family did. So today, I plan to take a moment to celebrate this incredible achievement — then tomorrow, get back to work to ensure every mitochondrial disease patient has access to a timely diagnosis, treatment, and eventually, a cure.”
– Philip Yeske, PhD, UMDF Science & Alliance Officer and father of Natalie, who passed away at age one in 2005.
“From hearing ‘Mito-what?’ in 1997 to seeing the first-ever FDA-approved mito therapy – this is a breakthrough decades in the making. It’s a victory for every patient, family, and advocate who never stopped pushing, and a sign of even more hope to come.”
– Charles “Chuck” Mohan, Founder of UMDF and father to Gina, who passed away at age 15 in 1995.