Seeing the light with retinal gene therapy: Towards prevention and treatment of blindness
Gene therapy has the potential to reverse disease or prevent further deterioration of sensory organs in patients with incurable degenerative diseases. The demonstration of safe and stable recovery of retinal and visual function in children and adults with congenital blindness due to RPE65 mutations in late phase (Phase 3) gene therapy trials being carried out in the USA provides great hope for people with other more common blinding diseases. Results from those Phase 3 studies reveal robust improvements in clinically meaningful measures, thereby placing this gene delivery reagent as the frontrunner for being the first approved gene therapy drug in the USA and the first gene therapy drug approved for blinding disease worldwide. While RPE65-associated retinal disease is rare, progress with this condition provides a stepping stone towards development of gene-based treatments for other genetic and acquired forms of blindness. This presentation will describe the path we established for translational studies and some of the challenges and opportunities for developing gene therapy for other, more common types of blindness. Prof Sahel and colleagues have been instrumental in developing many of these opportunities. Thanks to their dedication, persistence, and creativity, it is likely that there will be a day when individuals diagnosed with inherited blindness will no longer be told "there is nothing that we can do".
