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Luxturna - voretigene neparvovec-rzyl

Luxturna (voretigene neparvovec-rzyl) is currently the only approved gene therapy available in the US. It is the first medication approved for an inherited genetic disease ever. Luxturna was approved by the FDA at December 19, 2017 for the United States and it is currently under supervision at the EMA for approval in Europe. It is developed by by Spark Therapeutics and Children's Hospital of Philadelphia, and outlicensed commercial rights outside the United States to Novartis. The first commercial sale (the first for any gene therapy product in the US) occurred in March 2018. In September 2018, the European Medicines Agency's (EMA) has recommended granting a marketing authorisation for Luxturna.

Luxturna is used for patients with an inherited form of retinal dystrophy. Retinal dystrophy is an umbrella term for a wide range of progressive eye diseases. ‘Retinal’ means that the condition is related to the retina, which is the back layer of the eye which converts light into an understandable message to the brain. ‘Dystrophy’ is a degenerative condition. Retinal dystrophy causes progressive reduction or deterioration of vision which eventually can result in complete blindness. Luxturna can be used for patients who have mutations in the RPE65 gene in both chromosomes.

Luxturna is an adeno-associated virus type 2 (AAV2)-based treatment where the correct copy of the RPE65 gene is delivered without disturbing the genome. Luxturna is injected directly into the retina so it can infect the retinal cells. When RPE65 is expressed in those cells, it can perform its function and in principle, halt the progression of the disease.