Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy

Abstract

Retinitis pigmentosa GTPase regulator (RPGR)-related retinopathy is a retinal dystrophy inherited in a X-linked recessive manner that typically causes progressive visual loss starting in childhood with severe visual impairment by the fourth decade of life. It manifests as an early onset and severe form of retinitis pigmentosa. There are currently no effective treatments for RPGR-related retinopathy; however, there are multiple clinical trials in progress exploring gene augmentation therapy aimed at slowing down or halting the progression of disease and possibly restoring visual function. This review focuses on the molecular biology, clinical manifestations, and the recent progress of gene therapy clinical trials.

Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration

“…The approval of Voretigene neparvovec for RPE65 -associated retinal degeneration has promoted research into treatments for other IRD 7 . Several clinical trials are underway, aiming to deliver a healthy RPGR gene copy using adeno-associated viral vectors 8 – 10 .…”

“…Several clinical trials are underway, aiming to deliver a healthy RPGR gene copy using adeno-associated viral vectors 8 – 10 . Given the severity and prevalence of this condition, effective treatments are urgently needed to prevent, halt, or reverse disease progression 7 , 9 . Female carriers of RPGR variants, who may exhibit a severe male-like phenotype, could benefit from gene replacement therapies and should be equally considered for future therapeutic approaches, as has already happened in the phase 3 LUMEOS study (NCT04671433) 5 , 9 , 11 .…”