top of page


Disease Category: autosomal dominant

Patient Population: unknown

Treatment Options: None known

Strategies to Preserve Eye Health: None known

Active Clinical Trials: 3 recruiting

Institution(s) Conducting Research: University of Michigan, UPMC Eye Center Pittsburgh, UCSD, ue Anschutz-Rogers Eye Center, University of Colorado, Duke Eye Center, 




Naugatuck, CT


Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector



More to come

Artur V. Cideciyan, Raghavi Sudharsan, Valérie L. Dufour, Michael, T. Massengill, Simone Iwabe, Malgorzata Swider, BriannaLisi, Alexander Sumaroka, Luis Felipe Marinho, Tatyana Appelbaum, Brian Rossmiller, William W. Hauswirth, Samuel G.Jacobson, Alfred S. Lewin, Gustavo D. Aguirre, William A. Beltran | Edited by Jeremy Nathans, Johns Hopkins University, Baltimore, MD | August 20, 2018 |

115 (36) E8547-E8556

A number of gene-augmentation strategies are entering clinical trials for the treatment of inherited retinal blindness. Gene therapy for autosomal dominant diseases faces significant obstacles that include allelic heterogeneity and the potential need to silence the mutated gene. Here we show that a single-gene therapy vector that combines knockdown of the causative gene with its replacement by a resistant wild-type copy can prevent photoreceptor cell death and vision loss in a canine model of autosomal dominant retinitis pigmentosa.

bottom of page