FDA-Approved Gene Therapy Treatment Could Restore Sight in Two Young Boys

After a series of high-profile trials, FDA approved gene therapy drug Luxturna is being administered to two young boys.

Two boys are the first two people to receive an FDA-approved gene therapy treatment for a genetic disease. 

Nine-year-old Creed Pettit and thirteen-year-old Jack Hogan might live on opposite sides of the United States, but their stories are eerily similar. Both boys suffered from genetic mutations in their eyes, greatly affecting their vision since a young age. Both boys suffered from Leber congenital amaurosis, which stems from mutations in the RPE65 gene. That particular gene produces an enzyme that helps the eye collect light.

And, for both boys, their parents discovered while they were both toddlers that something wasn't quite right with their children. 

Luxterna: the most expensive drug offered in the US

Years later, the two underwent injections of a potentially revolutionary gene therapy drug called Luxterna from Spark Therapeutics. The price tag for the drug comes in at roughly $425,000 per eye, making it the most expensive drug offered in the United States. It's also often labeled as being the first "true" gene therapy on the market. 

Both Creed and Hogan will have the injections in both eyes with the appointments spread out over a week. The injection is delivered through a very thin needle that goes under a patient's retina. The injection carries a virus with copies of the gene RPE-65, and that gene will allow cells to create more of the protein that people needing the injection lack. 

The boys' injections took place on opposite ends of the U.S. Hogan's injection took place in the Massachusetts Eye and Ear institute under the hands of surgeon Dr. Jason Comander. Dr. Byron Lam treated Creed at the University of Miami's Bascom Palmer Eye Institute in Miami, Florida. 

Lam told Newsweek that the treatment's effects won't be rapid, but the treatment would certainly improve Creed's sight. 

"We don't expect to restore someone's vision completely," Lam said, but this treatment would get them closer than any other alternative. 

Given the relative novelty of Luxturna compared to other drugs, Lam said it's impossible for him to predict the future of Creed's response to the injection. 

"I can't really say what's going to happen to him 15, 20, 30 years from now," he said. "That's unknown territory."

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Hogan's mother Jeanette expressed similar concerns at the unknown. 

"Once this is all said and done and Jack tells me he can see better, that’s when we’ll celebrate," said Hogan the night before the surgery. "There’s still so many unanswered questions. Is it going to work? Will there be a difference? That’s what I’m waiting to see."

As Jack Hogan awaited treatment in Massachusetts, his biggest concern was needles -- and not particularly the one that was about to go in his eye. 

"I don’t like that there’s a needle for my IV,” he said in an interview with STAT News. “That’s the only thing I’m worried about. I don’t like needles."

But for the boys, the hope of healing remains the biggest potential benefit to the procedure, one that will ultimately cost both families over $850,000 per child either in insurance or in a structured payment plan. 

However, Creed's mother hoped her son's sight will significantly improve post-op. 

"He's dying to see a real rainbow," she said.