Gene Therapy Shows Promise for Childhood Blindness Linked to AIPL1 Gene

Researchers at University College London have made a significant advancement in gene therapy, demonstrating improved vision in children with severe inherited retinal dystrophy linked to the AIPL1 gene. This study marks the first of its kind to address this specific genetic cause of blindness through gene therapy. The inherited retinal dystrophy results from mutations in the AIPL1 gene, leading to severe vision impairment from birth, with limited treatment options. Previous research indicated that targeting the underlying genetic defect could be a viable strategy. The current study involved four children, aged 1 to 2.8 years, who received gene therapy using the adeno-associated virus (rAAV8.hRKp.AIPL1) to deliver a functional copy of the AIPL1 gene to the retina. Following treatment, the children exhibited improvements in vision, with treated eyes showing an average improvement of 0.9 logMAR compared to their baseline of 2.7. The control eyes did not show significant changes over time. Experimental results for older children showed better vision restoration.