Gene Therapy in Subjects With Biallelic RPE65 Mutation-associated Retinal Dystrophy

This is a gene therapy study for people with a rare inherited eye condition called RPE65 mutation-associated retinal dystrophy — a disease that progressively robs patients of their vision due to a defective gene in the retinal pigment epithelium, the layer of cells that supports the light-sensing photoreceptors in the eye. Without functional RPE65 protein, visual cells gradually die, leading to night blindness in early life and eventual severe vision loss. Gene therapy aims to deliver a working copy of the RPE65 gene directly into the eye. The study includes males and females aged 8 to 45 years with a confirmed clinical and genetic diagnosis of this condition. Participants with other significant eye diseases, active autoimmune conditions, systemic infections, pregnancy, or conditions that could cause additional vision loss are not eligible. Participants will receive a one-time subretinal injection of the gene therapy into one or both eyes and will be closely monitored for safety and changes in visual function. This kind of research is groundbreaking — gene therapy for inherited retinal disease represents one of the most exciting areas of modern medicine, with the potential to halt or even reverse vision loss in patients who previously had no effective treatment options.