Gene Therapy Restores Vision in Children with AIPL1-Related Retinal Dystrophy: A Promising Breakthrough

Scientists in London have achieved a significant breakthrough in restoring vision to children with a rare genetic condition called Leber congenital amaurosis 4 (LCA4), a severe form of retinal dystrophy. The innovative gene therapy involves injecting a functional copy of the AIPL1 gene into the retina of young patients, addressing the genetic deficiency that causes severe sight impairment from birth. The clinical trial, whose results were published in The Lancet, involved children between one and four years old. The treatment has shown meaningful improvements in visual acuity and functional vision, enabling them to perform simple vision-guided tasks. According to MeiraGTx, the genetic medicine company, eleven children who were legally blind at birth all gained visual acuity after receiving the gene therapy. The therapy, known as AAV-AIPL1, delivers the intact AIPL1 gene to cone and rod photoreceptors in the central retina. While the initial trial involved injecting the gene therapy into one eye of the first four children, subsequent trials involved both eyes of seven more children, with similarly promising early results. The therapy has been granted orphan drug designation by the US FDA and the European Commission, as well as rare pediatric disease designation (RPDD) by the FDA. MeiraGTx is planning to submit the gene therapy for expedited approval in the UK and is in discussions with the FDA for accelerated approval in the US.