As FDA delays approval, Mom fears son with rare disorder could lose access to drug she says is saving his life

Jordan Karle's 1-year-old son Jaylen experienced heart failure from birth because of Barth syndrome
By Aaron Hegarty
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OMAHA, Nebraska (KETV) — An Omaha mom says Food and Drug Administration approval of a drug intended to address her son’s rare condition can’t wait.
Jordan Karle’s 1-year-old son Jaylen experienced heart failure from birth because of Barth syndrome, a deadly, rare condition estimated to affect around 150 people in the U.S.
The FDA denied approval of the drug, elamipretide, last week, but gave a pathway to approval, according to the drug manufacturer and the Barth Syndrome Foundation.
A day after birth, Jaylen was given a 40% chance of survival, Karle said.
A month after birth in early 2024, Jaylen began taking the drug, which is available to critically ill babies through a program now, Karle said. Then, Jaylen’s heart functioned at 20%. In another month, his health functioned at a normal rate, Karle said. She said after more than a year on the drug, he is doing well and not experiencing side effects.
Karle’s brother died at 18 months old with Barth syndrome in 2004, Karle said. Although the syndrome is rare, it is not in her family. A 16-year-old cousin survives with a new heart, she said. Jaylen is the first to have access to elamipretide.
Karle says Barth syndrome patients of all ages deserve access to the drug. She says Jaylen is also at risk without FDA approval.
“We’ve been told that there’s going to be change within the FDA for the rare disease community,” Karle said. She said the FDS is “not showing that.”
She added: “Not approving this medication is a death sentence to not just my son, but everyone living with” Barth syndrome.
Karle traveled to Washington, D.C., last fall to speak to a committee that would eventually recommend approval of the drug on a 10-6 vote. She also met with Congressman Mike Flood, who wrote a letter to the FDA in March. In that letter, Flood wrote that the review process for elamipretide was already unusually long.
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