'Truly A Blessing': Drug That Saved Orland Park Baby With Rare Condition Approved By FDA

ORLAND PARK, IL — A drug that saved an Orland Park infant as he suffered from acute heart failure has been approved by the FDA, 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 Forzinity (elamipretide) has been essential in improving Adel's condition—and the family faced losing access to it as it awaited FDA approval and manufacturer's projected funding shortages. The FDA had delayed approval of the drug elamipretide for years, Shaban said.

Shaban and husband Ommar Mohammed were among families who rallied for public support to draw the attention of the FDA. Late last week, they learned it had worked.

The U.S. Food and Drug Administration announced on Friday that it had granted accelerated approval to the drug as the first treatment for Barth syndrome. The rare, life-threatening genetic disorder, which primarily affects males, occurs in approximately 1 in 300,000 births, Cleveland Clinic reports. It's usually diagnosed in early infancy or childhood, according to the National Organization for Rare Disorders.

“The FDA remains committed to facilitating the development of effective and safe therapies for rare diseases and will continue to work diligently to help ensure patients with rare diseases have access to innovative treatments," said George Tidmarsh, M.D., Ph.D., Director of the FDA’s Center for Drug Evaluation and Research.

Made by pharmaceutical company Stealth BioTherapeutics, the drug had 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 needed to be specifically approved for use in infants, Shaban said.

On Aug. 21, the company announced the FDA had accepted its resubmitted NDA—with a goal to complete its review by Sept. 26, fast-tracked from the typical six-month window. The Sept. 19 approval beat the projected timeline.

"It is truly a blessing to feel like I don’t have to hold my breath anymore and worry about when and if he might lose access to this life-saving medication," Shaban told Patch. "History has been made and hopefully has paved the way for rare diseases to have their voices be heard!"

Forzinity works by binding to the inner part of the mitochondria, improving mitochondrial structure and function, the FDA said. FDA granted Forzinity accelerated approval.

This pathway can allow earlier approval of medications that treat serious conditions and fill an unmet medical need on the basis of a measure that is considered reasonably likely to predict patient benefit but does not directly assess the benefit to the patient. Forzinity’s accelerated approval is based on improved strength of the muscle used to straighten the leg at the knee. FDA considers this improvement reasonably likely to predict patient benefit, such as an ability to stand more easily or walk farther. As a condition of accelerated approval, FDA is requiring the manufacturer of Forzinity to conduct a post-approval randomized, double-blind, placebo-controlled trial to confirm that the changes seen on knee muscle strength translate into patient benefit.

The U.S. FDA

The family had been receiving the drug for free, and for a set period of six to nine months. It needed 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."

The Barth Syndrome Foundation on Friday celebrated the milestone, adding that it will continue to work with the FDA for expanded access for all age groups. Labeled for individuals weighing 66 pounds or more, the approval does not yet include younger pediatric patients, who are commonly the most medically fragile, the foundation said. BSF remains committed to continue working with regulatory agencies, the sponsor Stealth BioTherapeutics (Stealth), and clinicians to pursue label expansions and ensure every individual with Barth syndrome—regardless of age—has the opportunity to access treatment.

“We are grateful for and applaud this incredible step that was reached expeditiously by the FDA after Stealth BioTherapeutics’ (Stealth) most recent new drug application and following years of circuitous challenges. We also never would have arrived at this milestone without the persistence of Stealth,” said Emily Milligan, MPH, Executive Director of BSF. “We have worked tirelessly to support this outcome, and today is a day to celebrate—although much work remains.”

While Stealth works with the FDA to provide data needed to expand the label to include all ages, the sponsor has agreed to provide a critical stop gap in care and continue providing expanded access to children weighing less than 66 pounds who are currently receiving treatment or require emergency access.

“This regulatory journey has been a daily exercise of resilience,” said Shelley Bowen, BSF Director of Family Services and Advocacy.

“For the past two years, our community has tearfully pleaded to be heard in hundreds of Congressional meetings. Today, some of those pleas have been heard. While access for our most vulnerable population remains incomplete, we are deeply grateful for Stealth’s commitment to provide an Expanded Access Program (EAP) for this population to make sure that emergency cases and individuals who are already on the therapy will have access. They are doing right by our community while we continue to push for approval for all ages.”