Families of children with rare, life-threatening disease push FDA to review drug application

Kristin Thorne Image
Wednesday, March 27, 2024
Families of kids with rare, life-threatening disease push FDA to review drug application
Investigative reporter Kristin Thorne has more on the rare disease and the fight to find a cure.

NEW YORK (WABC) -- People with Barth Syndrome - an ultra-rare, life-threatening disease - and parents of children with it are pushing the Federal Drug Administration merely to review an application for a drug that could help them. The FDA declined to do so three years ago, but the agency has a chance now to reconsider it.

Barth Syndrome affects 130 known American men and boys. It occurs only in the male population and causes an enlarged heart and overall muscle weakness. Many Barth patients require a heart transplant.

Pharmaceutical company Stealth BioTherapeutics has developed an injectable drug called elamipretide to help Barth patients. It is believed to be the only drug in existence and in clinical development to treat Barth Syndrome.

According to the Barth Syndrome Foundation, patients who take elamipretide show greater than 40% improvement in heart function, greater than 25% improvement in exercise tolerance and greater than 40% improvement in muscle function.

Three years ago, when Stealth submitted a new drug application to the FDA, the FDA refused even to review the application telling the company it didn't have enough patients in its trials. Stealth was only able to locate 12 patients.

"They want to see more patients," Stealth BioTherapeutics CEO Reenie McCarthy said in an interview with Eyewitness News investigative reporter Kristin Thorne. "So, it's been a bit of an impossible clinical development challenge to solve for us."

McCarthy said the FDA is accustomed to reviewing new drug applications with trials with thousands of patients, which don't exist for Barth Syndrome.

Stealth BioTherapeutics resubmitted its application to the FDA at the end of February. The FDA is expected to issue its decision by the end of the month.

McCarthy said Stealth has been providing the drug to patients under compassionate use, but if the FDA rejects the application again it may not be able to continue to do so and may have to stop producing the drug altogether.

"At some point for us it's going to be challenging for us to continue," she said. "And, we're getting close to that point."

It's a thought Jamie Dubuque, originally of Pennington, New Jersey, said she doesn't want to think about. Her son, Declan Comerford, 2, who has Barth Syndrome, relies on elamipretide.

"This is a life-changing medicine," Dubuque said.

Dubuque, who now lives in Arizona, was visiting family in New Jersey a year ago when Declan went into cardiac arrest. He was subsequently diagnosed with Barth Syndrome.

Declan was treated at Children's Hospital of Philadelphia where doctors told the family Declan may need a heart transplant. A doctor there, who was familiar with Barth Syndrome, also spoke with them about elamipretide.

"So, we took a leap of faith and we accepted the in-trial drug," Dubuque said.

After 15 weeks of daily injections of elamipretide, Declan's heart went back to normal size. He's still on the medication daily.

"He has zero heart failure," Dubuque said. "He's just a normal little boy."

Dubuque has been working with others in the Barth Syndrome community to push the FDA to review the elamipetride application.

"It seems like we're in the final push to get where we need to get with the FDA," she said. "I feel that a lot kind of weighs on Declan's story."

Eyewitness News also met with the parents of Alex Gattuso, 3, of Farmingville, who has Barth Syndrome. He is unable to eat because of weak muscles in his gastrointestinal tract and has to be fed through a feeding tube.

While Alex does not take elamipretide, it is something his parents would consider, so they are hopeful the FDA will allow the drug's application to at least be reviewed.

"It's not fair to have these children suffer and these families suffer if these kids can have a well-balanced lifestyle and feel a little more like a normal child," Joanna Gattuso, Alex's mother, said.

Eyewitness News asked the FDA how many patients the agency would have to see in the elamipretide trials in order for the drug application to be eligible for review.

The FDA issued a statement not answering the question, but stating, "The FDA generally cannot confirm or deny the existence of a pending product application or discuss the status of a pending application."

"For many Barth syndrome families, elamipretide represents their only hope for an affected child to have an increased chance to live into adulthood and to enjoy a life with reduced debilitating weakness and fatigue that precludes them from going to school, playing with friends, or holding a job," Kate McCurdy, the co-founder of the Barth Syndrome Foundation, said.

McCurdy's son died of Barth Syndrome in 2014, which is when she approached Stealth BioTherapeutics about developing a drug to help. McCurdy said those with the Barth Syndrome Foundation have held numerous meetings with the FDA to talk with them about elamipretide.

"Patients who have no approved treatment options deserve access to this medicine," she said. "It is unconscionable that the FDA refuses to even fully review the data. We implore them to be fair and equitable and to utilize the appropriate flexibility that has been granted to them by the US Congress for cases just like ours."

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