A treatment that one Hall County family said had been helping their daughter's rare illness has now been granted approval from the U.S. Food and Drug Administration.
The FDA issued a statement on Friday, September 19, saying that accelerated approval has been granted to Forzinity, which is an injection of the drug elamipretide, as the first-ever approved treatment of Barth syndrome. The illness is a rare and life-threatening disease of the energy-producing mitochondria in a person's cells.
According to the statement from the FDA, Forzinity treats the illness by "binding to the inner part of the mitochondria, improving mitochondrial structure and function." FDA Center for Drug Evaluation and Research George Tidmarsh said the approval is part of the administration's work to find new ways to treat rare illnesses.
"The FDA remains committed to facilitating the development of effective and safe therapies for rare diseases and will continue to work diligently to help ensure patients with rare diseases have access to innovative treatments," Tidmarsh said in a release.
The approval comes after several families around the country petitioned the FDA for the drug's approval. One of those families was Hall County couple Ben and Caroline Filchak, who said their daughter, Hope, has Microphthalmia with Linear Skin Defects syndrome (MLS), a mitochondrial disorder similar to Barth syndrome. Caroline Filchak said they had been using elamipretide after it was recommended to them by physicians at Children's Hospital of Philadelphia.
"Ever since we've taken the drug, so a year and a half now, her heart has maintained where it has been. It hasn't decreased (in function) anymore," Filchak told AccessWDUN earlier this year. "We saw a lot more energy out of Hope. She was sleeping around 17 hours a day before we were able to start the drug. Now she goes to school, she sings and dances and plays. She's able to really thrive and live a full childhood."
The FDA's Division of Cardiology and Nephrology had previously issued a letter in late May of this year rejecting an application for elamipretide to be used as treatment for conditions like Hope's. That left the family in limbo with only a limited supply remaining of the drug.
"Stealth, the manufacturer of this drug, has cut 30 percent of their overhead to try to manufacture the drug for as long as they can," Filchak said in a June interview. "They send you a six-month supply of the drug at a time. I probably have about four months left of it in my refrigerator. We give a shot of it to Hope every night...depending on how this goes with the FDA over the next couple of weeks and if we are able to make any headway and get to anybody that has any influence that could possibly help reverse this decision, then the four months that I have left in my refrigerator might be all that I get."
After the news Friday that the FDA had issued accelerated approval of the drug, Ben Filchak posted to social media that the family was thrilled to hear the news.
"What a great day for the rare disease community and all the people currently on a elamipretide[sic] and for all of those that will now benefit from it in the future," Filchak posted. "Tonight we can rest easy and celebrate!"
The Barth Syndrome Foundation issued a statement, thanking the FDA for the approval.
"We are grateful for and applaud this incredible step that was reached expeditiously by the FDA after Stealth BioTherapeutics' (Stealth) most recent new drug application and following years of circuitous challenges," the statement said. "We have worked tirelessly to support this outcome, and today is a day to celebrate - although much work remains."
