Developing gene therapy for Norrie disease

The study, led by Professor Jane Sowden from UCL Great Ormond Street Institute of Child Health, is developing a gene therapy for Norrie disease. This rare genetic condition predominantly affects boys, causing congenital blindness and progressive hearing loss. Current interventions for hearing loss, such as cochlear implants, are limited and fail to restore natural hearing fully. The study aims to develop a therapy that targets endothelial cells to prevent hearing loss, thereby improving the quality of life for affected children and their families. Norrie disease arises from mutations in the NDP gene, which encodes the norrin protein essential for vascular and sensory cell function. Using a mouse model of the disease, previous research has demonstrated that restoring norrin signalling to endothelial cells can prevent the degeneration of sensory hair cells critical for hearing. This proposal seeks to extend those findings by utilising adeno-associated virus (AAV) vectors to deliver NDP or related therapeutic genes to the cochlea and other affected areas. The innovative approach involves using a novel AAV serotype to ensure precise targeting of vascular endothelial cells while minimising off-target effects. The research includes validating the therapy in both mouse models and human tissue to ensure its applicability to patients. If successful, the research could establish a pioneering treatment for Norrie disease, significantly impacting patient care by preserving hearing and mitigating the effects of dual sensory deprivation.