Families of children with rare and life-threatening diseases are pushing the FDA to review drug enforcement

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

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

The pharmaceutical company Stealth BioTherapeutics has developed an injectable drug called elamipretide to help Barth’s patients. It is believed to be the only existing drug in clinical development to treat Barth syndrome.

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

Three years ago, when Stealth submitted a new drug application to the FDA, the FDA refused to even 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 somewhat impossible clinical development challenge for us to solve.”

McCarthy said the FDA is used to reviewing new drug applications with trials involving thousands of patients, which do not exist for Barth syndrome.

Stealth BioTherapeutics resubmitted its application to the FDA in late 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 making the drug altogether.

“At some point for us it’s going to be a challenge for us to continue,” he said. “And we’re getting closer to that point.”

It’s a thought Jamie Dubuque, originally from Pennington, New Jersey, said she doesn’t want to think about. Their son Declan Comerford, 2, who has Barth syndrome, is dependent on elamipretide.

“This is 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 later diagnosed with Barth syndrome.

Declan was treated at Children’s Hospital of Philadelphia, where doctors told the family that Declan might need a heart transplant. A doctor there, who knew about Barth syndrome, also talked to them about elamipretide.

“So we took a leap of faith and accepted the trial drug,” Dubuque said.

After 15 weeks of daily injections of elamipretide, Declan’s heart returned to its normal size. He is still taking his medication daily.

“He has zero heart failure,” Dubuque said. “He’s just a normal kid.”

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

“It looks like we’re in the final push to get where we need to get with the FDA,” he said. “I think Declan’s story carries a lot of weight.”

Eyewitness News also met with the parents of Alex Gattuso, 3, of Farmingville, who has Barth syndrome. He cannot eat because of weak muscles in his gastrointestinal tract and must be fed through a feeding tube.

Although Alex doesn’t take elamipretide, it’s something his parents would consider, so they hope the FDA will at least allow the drug’s application to be reviewed.

“It’s not fair that these kids suffer and these families suffer if these kids can have a well-balanced lifestyle and feel a little bit more like a normal kid,” said Joanna Gattuso, Alex’s mother.

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

The FDA issued a statement that did not respond to the question, but stated, “Generally, the FDA cannot confirm or deny the existence of a pending product application or discuss the status of an application pending”.

“For many families with Barth syndrome, elamipretide represents their only hope for an affected child to have a better chance of living into adulthood and enjoying a life with less debilitating weakness and fatigue that prevents them from going to school. ‘school, playing with friends or holding down a job,’ said Kate McCurdy, co-founder of the Barth Syndrome Foundation.

McCurdy’s son died of Barth syndrome in 2014, which is when he 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 to them about elamipretide.

“Patients who have no approved treatment options deserve access to this medicine,” he said. “It is inconceivable that the FDA would refuse to even fully review the data. We implore them to be fair and equitable and to use the appropriate flexibility granted to them by the US Congress for cases like ours.”

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Kristin Thorne has more on the lawsuit and how lawmakers are getting involved, too.


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