Sarah McCague

TL;DR: Voretigene neparvovec gene replacement improved functional vision in RPE65-mediated inherited retinal dystrophy previously medically untreatable.

TL;DR: The researchers report that the lack of immune response and the robust safety profile in this readministration gene therapy study may be due in part to the immune-privileged nature of the eye, and the low dose and very pure preparation of the AAV vector.

TL;DR: To the knowledge, AAV2-hRPE65v2 is the first successful gene therapy administered to the contralateral eye and the results highlight the use of several outcome measures and help to delineate the variables that contribute to maximal benefit from gene augmentation therapy in this disease.

TL;DR: After VN gene augmentation therapy, there was a favorable benefit-to-risk profile with similar improvement demonstrated in navigational ability and light sensitivity among 3 groups of subjects with RPE65 mutation-associated IRD, a degenerative disease that progresses to complete blindness.

TL;DR: This novel endpoint tracks functional vision changes in patients with inherited retinal dystrophies (IRDs) over time and shows clear signs of improvement in some cases and decline in others.