Laurence M Occelli, Lena Zobel, Jonathan Stoddard, Johanna Wagner, Nathaniel Pasmanter, Janice Querubin, Lauren M Renner, Rene Reynaga, Paige A Winkler, Kelian Sun, Luis Felipe Lp Marinho, Catherine R O'Riordan, Amy Frederick, Andreas Lauer, Stephen H Tsang, William W Hauswirth, Trevor J McGill, Martha Neuringer, Stylianos Michalakis, Simon M Petersen-Jones
In this study we investigated a gene augmentation therapy candidate for the treatment of retinitis pigmentosa (RP) due to cyclic nucleotide-gated channel beta 1 (CNGB1) mutations. We used an adeno-associated virus serotype 5-with transgene under control of a novel short human rhodopsin promoter. The promoter/capsid combination drove efficient expression of a reporter gene (AAV5-RHO-eGFP) exclusively in rod photoreceptors in primate, dog and mouse following subretinal delivery. The therapeutic vector (AAV5-RHO-CNGB1) delivered to the subretinal space of CNGB1 mutant dogs restored rod-mediated retinal function (electroretinographic responses and vision) for at least 12 months post treatment...
April 13, 2023: Molecular Therapy