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Seattle man first adult to get new gene therapy

Toby Willis gave up on medical miracles long ago.

The Seattle man’s eyesight started deteriorating when he was just a kid and couldn’t figure out why he kept crashing into things. By the time he was in his early 40s, Willis’ visual world had dimmed to shadows and silhouettes.

Still, he refused to obsess over scientific advances.

“I made it a point not to go down those rabbit holes, to be chasing that pipe dream,” Willis said.

Nevertheless, the possibility that something might be on the horizon occasionally tickled at the back of his mind.

So Willis checked in with his eye doctor late last year, setting in motion a train of events that culminated March 20 at Children’s Hospital Los Angeles (CHLA) when he became the first adult to undergo the first gene therapy approved in the U.S. for treatment of an inherited disease.

The medication, called Luxturna, is injected in the eye and uses a harmless virus to deliver working versions of a gene to the cells of patients whose own genes are defective. It targets a single, rare mutation, but has raised hopes that after decades of disaster and disappointment, a wave of gene therapies for other disorders is on the way.

At the same time, Luxturna’s staggering price tag of $425,000 per eye is raising questions about who can afford the newest medical technologies – and whether the results will justify the costs.

Willis already knows it won’t be a miracle cure for him. The therapy is expected to work best in children diagnosed early, before disease causes irreversible damage to their eyes. In Willis’ case, doctors hope it will keep the 44-year-old software engineer’s eyesight from getting worse and – perhaps – improve his ability to distinguish objects and navigate the world.

Without the surgery, Willis’ disease would eventually extinguish his eyesight altogether.

For physicians who have helplessly watched patients like Willis go blind, even an imperfect treatment represents a breakthrough. For gene-therapy researchers, it’s a thrilling validation.

“I think this is a game changer,” said Timothy Cherry, who’s exploring different ways to repair inherited forms of blindness at Seattle Children’s Research Institute. “What I see as inspiring is that this shows us that the fundamental idea works.”

The company he works for, Expedia, has generous health benefits covered the cost of having both eyes treated with Luxturna. Just seven medical centers in the country are approved by Luxturna’s developer, Spark Therapeutics, to deliver the treatment. Willis picked The Vision Center at CHLA, which offers the therapy to children and adults, and headed there as soon as possible.

“My doctor said, ‘Time is retinal cells.’ The longer I wait, the more I have to lose,” he said.

His left-eye surgery came a few hours after 13-year-old Jack Hogan in Boston became the country’s first Luxturna patient outside of clinical trials. Willis’ right eye was treated on March 27.

The full benefits won’t be clear for another month, and Willis is trying to keep his hopes in check.

Even if all the treatment does is stop further deterioration, Willis says that would make it worthwhile to him.

“This is really the only treatment we have for this devastating, progressive form of blindness,” Nagiel said.

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