Lancaster County family wants gene therapy approved for rare disease causing blindness

Two of Sam and Anna Beiler’s children have a rare degenerative disease that causes blindness, and currently there is no treatment for it.

But last week, the U.S. Food and Drug Administration moved a step closer to approving a gene therapy called Luxturna that could improve their vision by replacing a defective gene needed to process light.

The Beilers can hardly wait.

“Without this gene therapy, they will eventually go blind,” New Holland resident Sam Beiler said of his daughters age 16 and 4. “The sooner they do it, the better.”

The Beilers started noticing their oldest daughter having problems with her vision shortly after she was born, and moved quickly from an eye doctor to a specialist.

“It’s heartbreaking to see them struggle, but it’s also very overwhelming to see their friends reach out and help,” Sam Beiler said.

The oldest always has a flashlight with her, he said, and even though a market stand where she works is well-lit, she has to memorize where some things are.

She wrote a letter to the FDA saying socializing is difficult because in low-light conditions, she can’t read expressions or make eye contact, and in dim or shadowy places she often needs help getting around.

“Knowing that there’s a possible cure out there, I have hope for a better future, a whole new world to explore,” she wrote, expressing hope that Luxturna would enable her to more easily interact with people, participate in evening activities and play sports.

The Beilers are not involved with the Clinic for Special Children in Strasburg, a nonprofit that primarily serves Amish and old-order Mennonite children with genetic diseases.

The clinic doesn’t have any patients with LCA, according to administrators, but it’s active in several efforts to develop gene therapy for other conditions.

“While we are still learning about the long-term effects, recent studies in a host of rare disorders have been encouraging as a viable and long-lasting therapy, a possible game-changer for rare disease,” wrote Karlla W. Brigatti, the clinic’s genetic counselor. “We remain actively engaged in research design and advocacy for this therapeutic avenue when appropriate for our patients.”

If approved, Luxturna would be the first gene therapy in the U.S. for an inherited disease and the first in which a corrective gene is given directly to patients.

Luxturna is being developed by Philadelphia-based Spark Therapeutics, which started in 2013 “as a result of the technology and know-how accumulated over two decades at Children’s Hospital of Philadelphia.”

Researchers tested 20 patients a year after treatment by having them complete an obstacle course including challenges like a dark stairwell. They said 18 who got Luxturna showed the maximum improvement, while none of the patients in a comparison group did.

An expert panel voted 16-0 last week to approve Luxturna, and the FDA has until mid-January to make its decision. Spark said it expects Luxturna to be available to patients several months after FDA approval.

The price of Luxturna has not yet been determined, but according to the Associated Press, pharmaceutical analyst Michael Yee estimates the drug will be priced between $350,000 and $450,000 per injection.

Spark said in an email to LNP that it is “committed to helping ensure patients and their families have access to our gene therapies if they are approved.”

“We’re looking at programs that help off-set out-of-pocket costs and help cover travel costs to treatment centers,” the email said.

The Associated Press contributed to this story.

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