Patients of Inherited Diseases Just Got a Christmas Miracle!

Gene therapy has been on the horizon for years now, but before today, it was only a reality for patients with non-inherited diseases caused by genetic mutations. That just changed!
The U.S. Food and Drug Administration just approved a radical new gene therapy for rare types of childhood blindness (like RPE65-associated leber congenital amaurosis); it is also the first such treatment for any kind of inherited disease.
Called Luxturna, the therapy works by injecting copies of a normal version of the RPE65 gene into the patient’s eye. This gene is responsible for functioning light receptors in normal vision, and its mutations cause rare retinal diseases for thousands of people in the United States.

The approval for Luxturna comes after a successful clinical trial that found patients who received Luxturna demonstrated significant improvements in their ability to complete an obstacle course at different (low) light levels.

The therapy is not a cure, but it does largely improve eyesight for patients who almost all end up completely blind. Thus, not only is Luxturna’s approval a huge milestone in treating these debilitating conditions, but it is also indicative of the rapid development and innovation in the gene therapy field, which has historically faced every roadblock in the journey towards gene therapy treatment.
The next roadblock? Extraordinary prices.

Spark Therapeutics, the developer of the Luxturna treatment, is holding off announcing its price until next year, but some analysts worry that it could be close to $1 million. However, despite the price tag, the FDA approval shores up the huge potential of gene therapy in a wide-range of diseases, not just cancer. There are currently hundreds of gene therapy trials worldwide.

Luxturna is the third approval this year, after Kymriah, for resistant childhood leukemia, and Yescarta, for hard-to-treat adult lymphoma. It will likely be available in select locations after the New Year.
The holiday season is the perfect time for a miracle, and the success of Luxturna is surely just that for not only retinal disease patients, but for the entire rare disease community.


To learn read more about the FDA approval of Luxturna and gene therapy from the Washington Post, click here.

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