On December 18, 2017, the FDA approved voretigene neparvovec-rzyl, the first gene therapy product for the treatment of children and adult patients with confirmed bi-allelic retinal pigment epithelium-specific 65 kDa protein (RPE65) gene mutation-associated retinal dystrophy32,33 that leads to vision loss and may cause complete blindness in certain patients.33

Voretigene neparvovec-rzyl is the first gene therapy product licensed in the US that targets a disease caused by mutations in a specific gene.33,34

Voretigene neparvovec-rzyl is an AAV2 that has been genetically modified to express the human RPE65 gene, which it delivers to retinal cells. These retinal cells then produce the normal RPE65 protein that converts light into an electrical signal, thus providing the potential to restore patient’s vision.32,33