The Association Between Changes in Visual Function and Application of Gene Therapy in RPE65-LCA

A new study aimed to evaluate the association between changes in visual function and application of gene therapy in patients with RPE65-associated LCA (RPE65-LCA), an inherited retinal degeneration caused by the mutations of RPE65 gene.

A database search of PubMed, Cochrane Library, and Web of Science for studies describing efficacy of gene therapy in patients with RPE65-LCA yielded 1 randomized and 5 prospective non-randomized clinical trials, with a of 164 eyes, meeting inclusion criteria.

At 1-year post treatment, Best Corrected Visual Acuity was significantly improved in treated eyes by – 0.10 logMAR (95% CI, – 0.17 – -0.04; P = 0·002). However, at 2-3 years post treatment there was no significant difference (WMD: 0.01; 95% CI, – 0.00 – 0.02; P = 0·15). At 1-year post treatment, FST sensitivity to blue flashes improved by 1.60 log (95% CI, 0.66-2.55; P = 0.0009); there was no significant difference to red flashes (WMD: 0.86; 95% CI, – 0·29-2.01; P = 0.14). At 1-year there was no significant difference in central retinal thickness, but at 2-3-years post treatment, central retinas in treated eyes appeared thinner by 19.21 μm (95% CI, – 34.22 – -4.20; P = 0.01).

Reference

Wang X, Yu C, Tzekov RT, et al. The effect of human gene therapy for RPE65-associated Leber’s Congenital Amaurosis on visual function: a systematic review and meta-analysis. Orphanet J Rare Dis. 2020;15(1):49.