NEW YORK (WABC) — Patients with Barth syndrome, an extremely rare and life-threatening disease, and the parents of their children are simply asking the Federal Drug Administration to review applications for drugs that could help them. The FDA rejected it three years ago, but now has a chance to reconsider.

Barth syndrome affects 130 known American men and boys. This only occurs in men and causes an enlarged heart and overall muscle weakness. Many Bath patients require heart transplants.

Pharmaceutical company Stealth Biotherapeutics has developed an injectable drug called elamipretide to help patients with Bath. 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 more than 40% improvement in heart function, more than 25% improvement in exercise tolerance, and more 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, saying there weren’t enough patients for the trial. Only 12 of her patients were discovered by stealth.

“They want to see more patients,” Stealth Biotherapeutics CEO Reenie McCarthy said in an interview with Eyewitness News investigative reporter Christine Thorne. “There is,” he said. “So this was an impossible clinical development challenge for us to solve.”

McCarthy said the FDA is used to reviewing new drug applications in clinical trials involving thousands of patients, but no such trials exist for Barth syndrome.

Stealth BioTherapeutics resubmitted its application to the FDA in late February. The FDA is expected to make a decision by the end of this month.

McCarthy said Stealth is offering the drug to patients under compassionate use, but if the FDA denies its application again, it will not be able to continue offering it and will stop manufacturing the drug completely. He said it may be necessary.

“At some point, it’s going to be difficult for us to continue,” she said. “And we’re getting close to that point.”

Jamie Dubuque, from Pennington, New Jersey, said that’s not a thought he wants to think about. Her son Declan Comerford, 2, who has Barth syndrome, is dependent on elamipretide.

“This is a life-changing drug,” 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 then diagnosed with Barth syndrome.

Declan was treated at Children’s Hospital of Philadelphia, where doctors told his family he may need a heart transplant. A doctor familiar with Barth syndrome also told them about elamipretide.

“So we took the plunge and accepted an investigational drug,” Dubuque said.

After 15 weeks of daily injections of elamipretide, Declan’s heart returned to normal size. He still takes medicine every day.

“He does not have heart failure,” Dubuque said. “He’s just a normal little boy.”

Dubuque, along with others in the Barth syndrome community, has been lobbying the FDA to review the application for elamipetride.

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

Eyewitness News also met with the parents of 3-year-old Alex Gattuso, who lives in Farmingville and has Barth syndrome. Due to weak gastrointestinal tract muscles, he is unable to eat and must be fed through a feeding tube.

Although Alex is not taking elamipretide, his parents are considering taking it and are hoping the FDA will at least allow them to review the drug’s application.

Alex’s mother, Joanna Gattuso, said: “It’s not fair for these children and their families to suffer if they could live a balanced lifestyle and feel a little more like normal children. ” he said.

Eyewitness News asked the FDA how many patients the agency would need to see in a clinical trial of elamipretide for a drug application to be considered for review.

The FDA issued a statement that did not respond to questions, but said, “FDA generally does not confirm or deny the existence of a pending product application or discuss the status of a pending application.” I can’t.”

“For many Barth syndrome families, elamipretide increases an affected child’s chance of living into adulthood and reduces the debilitating weakness and fatigue that prevents them from going to school, playing with friends, and being held. “It represents their only hope for enjoying life: work,” said Kate McCurdy, co-founder of the Barth Syndrome Foundation.

McCurdy’s son died from Barth syndrome in 2014, and that’s when she approached Stealth Biotherapeutics about developing a treatment. McCurdy said Barth Syndrome Foundation officials have met multiple times with the FDA to discuss elamipretide.

“Patients for whom there is no approved treatment have a right to access this medicine,” she said. “It is unconscionable for the FDA to refuse to even fully consider the data. We believe that the FDA will be fair and impartial, and that it will take advantage of the appropriate flexibility granted by the U.S. Congress for cases like ours. I long to do that.”

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