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CBS News
20 hours ago
- Health
- CBS News
Bay Area family shares frustrations after FDA rejects drug for ultra-rare Barth Syndrome
With the FDA recently rejecting a drug application that aims to help those living with Barth Syndrome, one Bay Area family is frustrated by the delay of approved treatments in the rare disease community. Approximately 150 people live with Barth Syndrome nationwide, an ultra-rare genetic disorder that affects only males and impacts muscle and heart muscle health. "He has a severe heart failure, and was admitted to the hospital where he was on intravenous medications to help his heart pump," Megan Branagh, whose son Henry has Barth Syndrome, told CBS News Bay Area. Megan's son was diagnosed with the disease when he was three months old. "There's no treatment or cure for it at all, just simply symptom management," she said. There are currently no FDA-approved therapies for the disease, but Stealth BioTherapeutics has been working for years to get a target drug approved. "Extremely long and delayed," Megan said. "We were supposed to get an answer in January, and FDA asked for a three-month extension based on some data they had requested." The drug, elamipretide, targets cardiolipins, a molecule in the mitochondria that is a key source for the gene defect. It's the only drug for Barth Syndrome clinical trials. After several delays, however, the FDA announced it will not be approving the drug application. Megan believes federal budget cuts could be one of the reasons. "There was only one person left remaining at the FDA who had a hand on our case for this final part of it," she said. "We've heard from the current administration the desire to make medication available for the rare disease community, and the support of the rare disease community. And this case defies everything that has been publicly stated over the last few months." The FDA instead recommended that more data be included in the company's resubmission of the drug application. While the company said they are optimistic for a new path forward with the agency, families like the Branaghs are anxiously waiting for the approval. "Sickening to know that there's something out there that could make a difference that might never be available for Henry or anyone else," she said. Her son is 13 years old and has endured many challenges, taking at least eight pills a day and making frequent trips to the doctor's office. "I do it and I just get it over with," Henry Branagh told CBS News Bay Area. "And I wait six more months, and they usually put a heart monitor for two days and I take it off." He shared that he enjoys playing sports, including baseball, soccer, skiing, and swimming. "I love playing with my friends," Henry said. He added that he does take more frequent breaks to maintain his heart health, and hopes there will be more treatment options for him soon. "It'd be really nice for me to have it too, because my wish is to like live one day be normal without having Barth Syndrome," Henry said. "Mainly when I'm in sports, and I'm running around, and I get tired and other kids are running way faster and have way better stamina." Dr. Hitenda Patel, the Branagh's family cardiologist, told CBS News Bay Area that he doesn't see the application rejection as a denial. "I think the FDA wants a little more data on its efficacy," Patel, who is also the pediatric cardiology director at UCSF Benioff Children's Hospital in Oakland, said. "There are a lot more designer drugs being developed. And designer drugs specifically, are often for rare diseases. And if you only have, let's say, at the most 500 patients in the world, it's very hard to get approval based on the current mandates for the FDA," he added. Patel said FDA approvals in the pediatric rare disease community are an even bigger hill to climb. "It seems like it's a delaying tactic, but I think you have to respect the FDA and its process because it's what has allowed to develop many things," he said. "And ultimately, they are in charge of the safety of the American people." He said that with work from those like the Branagh's do make an impact. "With advocacy such as the Barth Syndrome and what the Branaghs are doing, FDA has realized that there is a huge difference between approval process that is needed for the pediatric and rare disease market as opposed to something that is more common," Patel said. "Because the FDA has its mandates and you have to go through the trial process, it takes a long, long, long time." Patel said he remains optimistic for the community that often gets overlooked. And so, the fight continues for the Branaghs. "Super proud. He inspires us to live our best every moment and take nothing for granted," Henry's mother said. "I think the worst thing to watch as a parent to know that your kid has something that you can't do anything about." She adds that she will continue to fight for his health, no matter how long it takes. "My parents help me out a lot, they just always push me and encourage me to keep on going," Henry said. CBS News Bay Area reached out to Stealth BioTherapeutics, and a spokesperson said that while there is no public timeline yet for next steps, they are working closely with the FDA urgently to reach approval. Meanwhile, the Branaghs are preparing for their next fundraising campaign that will take place at the JBL Ranch on September 27. "Our family started something called Happy Heart Week, that is an awareness and fundraising campaign all around Barth Syndrome. 13 years now, and all the funds go directly to the foundation to support everything that they're doing," she said.
The Sun
30-05-2025
- Business
- The Sun
Stealth Bio to cut jobs after FDA rejects therapy for rare disorder
PRIVATELY held Stealth BioTherapeutics said on Thursday the U.S. Food and Drug Administration had declined to approve its therapy for an ultra-rare condition called Barth Syndrome, prompting it to cut 30% of its workforce. Barth syndrome, which is estimated to affect around 150 people in the United States, has no approved treatments. It typically affects boys and causes heart and muscle weakness, as well as delayed growth. The FDA has asked the company to resubmit its application, which Stealth said would require more capital and prompted the job cuts. The FDA did not respond to a Reuters request for comment The therapy, elamipretide, has faced several setbacks, including the FDA's refusal to accept its marketing application in 2021. The company subsequently went private in 2022. The latest setback comes after a 16.5-month review, during which the FDA extended its review from January to April to assess additional data. Last month, the regulator missed the extended deadline. The company said the rejection came 'out of the blue'. 'We don't understand why it wasn't an approval, because there isn't really a request that we resubmit new data,' said CEO Reenie McCarthy. 'I think our frustration is: why didn't this come sooner?' McCarthy said. In October, a panel of advisers to the FDA voted 10-6 in favor of the therapy. Stealth had submitted data from a mid-stage trial that showed improvement in knee muscle strength by over 45%, which correlated with improvements on the six-minute walk test. FDA raised the possibility of an accelerated approval based on the findings, but is hesitant to extend the pathway to critically ill newborns, who make up nearly two-thirds of the therapy's expanded access program participants. The company said it will meet with the FDA next month.
