Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration that leads to severe sight loss in young people 1 , 2 , 3 , 4 , 5 , 6 . Here we report the first in human Phase I/II dose escalation clinical trial for X-linked RP caused by mutations in the RP GTPase regulator (RPGR) gene 7 in 18 patients up to 6 months follow-up ( Clinicaltrials.gov : NCT03116113). The primary outcome of the study was safety and secondary outcomes included visual acuity, microperimetry and central retinal thickness. Apart from steroid-responsive subretinal inflammation in patients at the higher doses, there were no significant safety concerns following subretinal delivery of an adeno-associated viral vector encoding codon-optimized human RPGR (AAV8. coRPGR ) 8 meeting the pre-specified primary endpoint. Visual field improvements beginning at one month and maintained to the last point of follow-up were observed in six patients.

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