Health Canada approves first-ever gene replacement therapy, Luxturna, a one time treatment for vision loss due to inherited retinal dystrophy with biallelic RPE65 mutations.-Novartis

Novartis Pharmaceuticals Canada Inc. announces that Health Canada has approved Luxturna (voretigene neparvovec), a one-time gene therapy for the treatment of adult and pediatric patients with vision loss due to inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations and who have sufficient viable retinal cells. The presence of biallelic RPE65 mutations should be confirmed by an accredited laboratory using validated assay methods. Due to the highly specialized nature of the therapy, Novartis is collaborating with key centres and their multidisciplinary teams to deliver Luxturna to patients across Canada: SickKids in partnership with Sunnybrook Health Sciences Centre in Ontario, and Montreal Children’s Hospital, McGill University Health Centre in partnership with Maisonneuve-Rosemont Hospital (HMR), Centre intégré universitaire de santé et de services sociaux (CIUSSS) de l’Est-de-l’Île- de-Montréal, affiliated with Université de Montréal in Quebec. The current standard of care for people born with IRDs caused by RPE65 gene mutations is supportive in nature and focuses on monitoring, psychological support, mobility training and visual rehabilitation. Until now, no pharmacological treatment option was available to treat the underlying disease mechanism or alter the natural history of inherited retinal dystrophies. While a genetic test is needed to confirm that vision loss is caused by mutations in the RPE65 gene, it can be a lengthy process to access testing and counselling. Novartis has entered into a partnership with Blueprint Genetics to help facilitate genetic testing where appropriate in order to validate the diagnosis.