Researchers from the NIHR Moorfields Biomedical Research Centre and University College London with support from MeiraGTx have developed a novel gene therapy approach for Leber congenital amaurosis, a severe genetic disorder causing early-onset retinal degeneration and vision loss in children.

An initial study led by Professor Jacqueline van der Spuy at University College London and funded by Rosetrees successfully tested the gene therapy treatment provided by MeiraGTx in human retinal organoids derived directly from patients to address the genetic deficiency in the AIPL1 gene, which causes Leber congenital amaurosis in children.

Following on from this study, in a first-of-its-kind first-in-human interventional study, four children underwent gene therapy led by specialists from Evelina London Children’s Hospital, St Thomas’ Hospital, Great Ormond Street Hospital and Moorfields Eye Hospital. The results have been extraordinary, with treated eyes showed significant improvements in visual acuity, with some children gaining the ability to see where they previously could only perceive light.

This treatment has the potential to treat other children with this devastating condition and valuable insights into potential treatment strategies for genetic retinal disorders. Further investigation is ongoing to fully understand the long-term implications of this gene therapy approach.