Health Canada approves first-ever gene replacement therapy, Luxturna®


DORVAL, QC, Oct. 15, 2020 /CNW Telbec/ - Novartis Pharmaceuticals Canada Inc. is pleased to announce 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.

nherited retinal dystrophies (IRDs) are a group of blinding conditions caused by mutations in more than 270 different genes, including the RPE65 gene3. RPE65-mediated IRDs often disproportionally affect children and young adults and cause progressive vision loss, leading to complete blindness in almost all patients 2. Luxturna is designed to provide functioning copies of the RPE65 gene to act in place of mutated RPE65 genes2. These functioning genes produce the RPE65 protein to help improve vision and prevent progression towards total blindness2.

"The effects of RPE65-mediated inherited retinal diseases can be life-changing. Previously, there was no treatment available and the progression towards complete blindness was inevitable." said Dr. Elise Héon, an Ophthalmologist in the Department of Ophthalmology and Vision Sciences and the Director of the Eye Genetics Program at The Hospital for Sick Children (SickKids) in Toronto. "This approval is a very important step forward in the treatment of genetic eye disorders."

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.

"Being part of tremendous innovations in the treatment of certain eye conditions over the past decades has been incredibly rewarding. Gene therapy heralds the start of a new era for IRDs and I'm thrilled to be part of this historic moment and equally excited to be able to give patients a chance to regain sight with Luxturna," said Dr. Peter Kertes, retina surgeon and Ophthalmologist-in-Chief, Sunnybrook Health Sciences Centre and staff ophthalmologist at SickKids in Toronto.

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 rehabilitation4. 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 gene2, 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.