This Family Has High Hopes for Gene Therapy Approval

Sam and Anna Beiler have not one, but two children with a rare degenerative disease that causes blindness.

As of now, there is no treatment.

Last month, however, the FDA made progress toward approving Luxturna, a gene therapy that could improve vision by replacing a defective gene that is required to process light properly. Needless to say, the Beilers are thrilled. Without the aid of this gene therapy, the daughters of 16 and 4 will surely go blind

Shortly after their daughter was born, they noticed that she began to have vision problems and knew they had to move from an eye doctor to a specialist. In 2010, it was confirmed that she had a rare genetic disease called Leber congenital amaurosis (LCA). It currently affects 3,000 people in the United States. Because it’s genetic, their younger daughter also has the same disease. To learn more, click here.

Their oldest daughter of 16 keeps a flashlight handy if things were to ever get too dark. She has trouble seeing unless an area is well-lit. In a letter to the FDA, she wrote about how this condition has affected her life. She dreams of being able to engage in social settings during the evening or night, play sports, and essentially live a normal life

If Luxturna were to be approved, it would be the first gene therapy in the U.S. used for an inherited disease. Kymriah, aka CAR-T was the first gene therapy approved in the United States as a treatment for childhood leukemia.
 Spark Therapeutics is bringing Luxturna to life. They were established in 2013 after the right cutting edge technology and research had been assembled over 20 years at Children’s Hospital in Philadelphia.

Twenty patients were tested by researchers in a fun-filled obstacle course that involved a dark stairwell to test out vision. According to the results, 18 of the patients who had Luxturna showed the most improvement while the ones who did not, showed zero improvement.

The FDA has until mid-January to make their final decision but an expert panel just voted 16-0 last week to approve the drug. When approved, Spark Therapeutics expects Luxturna to be on the market a few months later.

In an email to LNP, Spark said:

“We are 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.”

In the meantime, the Beiler family will eagerly anticipate Luxturna’s approval.

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