Orland Family's Fight For Drug That Saved Son Sees Progress With FDA

ORLAND PARK, IL — A drug that saved an Orland Park infant as he suffered from acute heart failure is closer to federal approval, just as families like his feared they'd lose access to it.

Nour Shaban's son Adel has Barth syndrome, a rare and life-threatening mitochondrial disease. Doctors diagnosed him at just 5 weeks old, when he suffered acute heart failure, went into cardiac arrest, and was placed on an oxygen support system as his heart faltered.

Since then, a medication called elamipretide has been essential in improving Adel's condition—and the family has faced losing access to it as it awaits FDA approval and manufacturer's projected funding shortages. The FDA has delayed approval of the drug elamipretide for years, Shaban said, and families like hers might not have it as soon as September.

Shaban and husband Ommar Mohammed were among families who rallied for public support to draw the attention of the FDA. And it's seemingly worked.

RELATED: Orland Park Parents In Fight For Medication That Saved Their Infant Son

Made by pharmaceutical company Stealth BioTherapeutics, the drug has faced hurdles within the federal agency. Specifically, the company has been instructed to resubmit their NDA, or new drug application. The NDA is the vehicle through which drug sponsors formally propose that the FDA approve a new pharmaceutical for sale and marketing in the U.S., according to the FDA website. The drug also needs to be specifically approved for use in infants, Shaban said.

On Aug. 21, the company announced the FDA has accepted its resubmitted NDA—with a goal to complete its review by Sept. 26, fast-tracked from the typical six-month window.

"We appreciate the FDA's timely acceptance and commitment to expeditiously review our NDA resubmission," said Reenie McCarthy, Chief Executive Officer. "We are sharing this news in the spirit of transparency with families living with Barth syndrome and their many champions, and with gratitude to the FDA for recognizing the urgency of the unmet need."

Stealth resubmitted its NDA to the FDA on Aug. 15. If approved, this would be the first marketing authorization for elamipretide, a first-in-class mitochondria-targeted therapeutic.

It's a glimpse of light at the end of an increasingly dark tunnel for Shaban, and others like her.

"I’m feeling optimistic and grateful our voices are all being heard and that our efforts are not being ignored," Shaban told Patch. "The fight isn’t over yet because the FDA has had previous delays in the past and missed deadlines!"

Barth syndrome is a rare, life-threatening genetic disorder, which primarily affects males. It occurs in approximately 1 in 300,000 births, Cleveland Clinic reports, and is usually diagnosed in early infancy or childhood, according to the National Organization for Rare Disorders.

Barth syndrome currently has no FDA-approved treatments, according to the Barth Syndrome Foundation, MitoAction and United Mitochondrial Disease Foundation. Elampretide has been studied as an investigational therapy for Barth syndrome and other conditions of mitochondrial dysfunction.

The family has been receiving the drug for free, and for a set period of six to nine months. It needs to be approved within that timeframe, Shaban said, in order for Adel to keep taking it. The difference in Adel since being on the medication has been significant. His heart function has improved from 10 percent in March, to 55 percent in June.

"He’s not going back into acute heart failure," Shaban said. "He’s not having respiratory distress. That’s the main thing I’ve seen improve with him."

Shaban said the drug has been the only thing that's helped her son.

"It’s not a cure, but it has made a real difference in his strength, energy, and heart function," she shared on social media. "It gave us hope when there was none."