RS1 AAV vector

RS1 AAV vector is a recombinant adeno-associated virus (AAV) gene therapy designed to deliver a functional copy of the human *retinoschisin* (RS1) gene to retinal cells. The most common vectors used are based on serotype 8 (AAV8), but other engineered capsids such as rAAV2tYF and AAV.SPR have also been developed. The primary indication is X-linked retinoschisis (XLRS), a rare inherited retinal disorder caused by mutations in the *RS1* gene that leads to splitting of the retina and progressive vision loss in males. The mechanism of action involves transducing retinal cells with the RS1 cDNA under control of a retina-specific promoter and enhancer elements; this restores expression of functional retinoschisin protein in the outer retina. Preclinical studies and early-phase clinical trials have shown that intravitreal or subretinal administration can improve retinal structure and function by repairing synaptic pathology at photoreceptor-bipolar cell synapses[1][2][3][6]. Multiple companies have contributed to its development using different proprietary vectors.

Other names

RS1 gene therapyRS-1 gene therapyRS 1 gene therapy