LUXTURNA Proves Effectiveness of Single Gene Therapy To Cure Rare Cause of Blindness Interview with:

Dr. Stephen M. Rose, PhD Chief Research Officer Foundation Fighting Blindness

Foundation Fighting Blindness

Dr. Stephen Rose PhD
Chief Research Officer
Foundation Fighting Blindness (FFB)

Dr. Rose comments on the announcement of the FDA approval of voretigene neparvovec (LUXTURNA™) gene therapy for inherited blindness due to mutations in the RPE65 gene.

What is the background for this announcement? What were the main findings from the study?

Response: While it has been 30 years since the RPE65 gene was identified as causing Leber’s Congenital Amaurosis, this shows that it is possible to have an effective gene therapy for an inherited disease. As the first gene therapy for the eye or for an inherited disease, LUXTURNA is a historic milestone in the search for cures for all inherited retinal diseases (IRDs). As a one-time gene therapy, LUXTURNA will not only be life-changing for patients with vision loss due to mutations in the RPE65 gene, it also provides critical momentum for gene therapies – for the eye and other diseases – now in the clinic. Would you explain the basics of how this gene therapy works and what types of patients will benefit?

Response: The treatment restores vision by delivering working copies of the RPE65 gene directly into the retina thereby compensating for the nonfunctional, mutated genes. It is the result of over two decades of research and development at the University of Florida, the University of Pennsylvania, Children’s Hospital of Philadelphia and Spark Therapeutics. What should readers take away from this announcement?

Response: The primary takeaway in general is that gene therapy is a viable treatment strategy for inherited rare retinal degenerations and most probably other inherited diseases. Because LUXTURNA is a mutation-specific treatment, it is an example of the importance of IRD patients undergoing genetic testing. In most cases, genetic testing allows the patient and their doctor to know what gene mutation is causing their vision loss. When testing results become part of patient registries, such as the Foundation Fighting Blindness’ MyRetinaTracker registry, the information helps advance the field by giving researchers more information about disease occurrence and progression. While the confidentiality of your individual information is protected, the data in a patient registry is an invaluable tool to researchers as they look for clinical trial subjects and otherwise work to advance the research. What recommendations do you have for future research as a result of this announcement?

Response: Our hope is that this first FDA approval will lead to additional investment in gene therapies. LUXTURNA was a proof-of-concept for gene therapy interventions. We now have a gene therapy for a single mutation. We need to invest more effort (and money) into creating such treatments for other mutations and how to use gene therapy to deliver treatments that are not gene specific so more affected individuals can receive life altering treatments. Is there anything else you would like to add? Any disclosures?

Response: The Foundation Fighting Blindness currently funds 75 research projects at prominent laboratories and clinical centers around the world and across the spectrum of retinal degenerations and treatment technologies. For more information about the Foundation’s science program, visit

FDA News Release

FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss

Luxturna is the first gene therapy approved in the U.S. to target a disease caused by mutations in a specific gene is not a forum for the exchange of personal medical information, advice or the promotion of self-destructive behavior (e.g., eating disorders, suicide). While you may freely discuss your troubles, you should not look to the Website for information or advice on such topics. Instead, we recommend that you talk in person with a trusted medical professional.

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Last Updated on January 15, 2018 by Marie Benz MD FAAD