First gene therapy for a blinding eye disease receives FDA approval

December 19th, 2017 by Dr. Mary Sunderland

Today we are celebrating the FDA’s pathbreaking approval of Luxturna.

We have been following the development of Luxturna closely. Today’s landmark FDA approval makes Luxturna the first gene therapy approved in the US that targets a disease caused by mutations in a specific gene. The next steps involve determining the price for Luxturna, which poses special challenges because gene therapies are so novel. There is no rule book to follow; a new path forward must be created!

It is encouraging that the FDA is taking concrete steps to create a policy framework that incorporates the use of gene therapies. “Today’s approval marks another first in the field of gene therapy… this milestone reinforces the potential of this breakthrough approach in treating a wide-range of challenging diseases.” said FDA Commissioner Scott Gottlieb, M.D. “We’re at a turning point when it comes to this novel form of therapy and at the FDA, we’re focused on establishing the right policy framework to capitalize on this scientific opening.” At the FFB, we are communicating with Health Canada, and with provincial regulatory bodies, and advisory and assessment committees, to ensure that we can make innovative treatments, like Luxturna, accessible to Canadians.

To determine if a new gene therapy might work for you – you must learn your genetic diagnosis, which is even more important than the “name” of your disease. For example, Luxturna is approved to treat patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy (“biallelic” indicates that there are mutations in both copies of the gene). Some of the patients with this “genetic diagnosis” have been diagnosed with Leber congenital amaurosis (LCA). Luxturna works by delivering a normal copy of the RPE65 gene directly to retinal cells. These retinal cells then produce the normal protein that converts light to an electrical signal in the retina, thereby stopping further vision loss and restoring some functional vision.

Your genetic diagnosis plays an essential role in determining if Luxturna, or other future gene therapy treatments, may work for you. We know that getting a genetic diagnosis is not straightforward. Please consult our guide to genetic testing and consider reaching out to us to share your genetic testing experience. Your stories help us to identify and understand the gaps, so we can work to fix them.

Inherited retinal diseases encompass a broad group of different genetic retinal disorders, such as retinitis pigmentosa, Stargardt disease, Usher syndrome, and LCA. Although there are important differences between these diseases, they all involve the progressive loss of vision and are caused by mutations in any one of more than 220 different genes. Biallelic RPE65 mutation-associated retinal dystrophy affects approximately 1,000 to 2,000 patients in the U.S. (Using extrapolation based on population size, there should be about 200 patients in Canada).  You can help us to better quantify the number of Canadians living with inherited retinal diseases by enrolling on our Patient Registry – a tool that was designed to connect patients with new treatments and clinical trials.

Today’s news about Luxturna – the first gene therapy for a blinding eye disease – is a tangible sign of progress. 2017 was an incredibly exciting year for gene therapies – what a way to finish!!

References:

Visit the FDA site to read their full new release here.