Inherited 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 H?on, 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 int?gr? universitaire de sant? et de services sociaux (CIUSSS) de l'Est-de-l'?le-de-Montr?al, affiliated with Universit? de Montr?al 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. "The approval of the first gene replacement therapy for Canadians is historical. We have been waiting for this moment in the vision community for decades. To be able to tell a parent that their child's impaired sight could now be restored or improved is remarkable,' said?Doug Earle, President & CEO of Fighting Blindness Canada. "We welcome this medical innovation and hope that Canadians in need of this therapy have access to it without delay." "Novartis is proudly reimagining medicine by bringing forward innovations like Luxturna. Today's approval will have a significant impact on patient care," said?Andrea Marazzi, Country Head, Novartis Pharmaceuticals Canada. "We are grateful to the vision community for rallying behind Canadians who are impacted by vision impairment and vision loss and we are committed to helping them gain access to this game-changing gene therapy as quickly as possible." About?RPE65?mutation-associated inherited retinal dystrophy
Mutations in both copies of the?RPE65?gene affect approximately 1 in 200,000 people and can lead to blindness^5,6. Early in the disease patients can suffer from night blindness (nyctalopia), loss of light sensitivity, loss of peripheral vision, loss of sharpness or clarity of vision, impaired dark adaptation and repetitive uncontrolled movements of the eye (nystagmus)⁶. Patients with mutations in both copies of the?RPE65?gene may be diagnosed, for instance, with subtypes of either Leber congenital amaurosis or retinitis pigmentosa⁷. About Novartis in Cell & Gene Therapy
Novartis is at the forefront of cell and gene therapies designed to halt diseases in their tracks or reverse their progress rather than simply manage symptoms. The company is collaborating on the cell and gene therapy frontier to bring this major leap in personalized medicine to patients with a variety of diseases, including genetic disorders and certain deadly cancers. Cell and gene therapies are grounded in careful research that builds on decades of scientific progress. Following key approvals of cell and gene therapies by health authorities, new treatments are being tested in clinical trials around the world. About Novartis in?Canada
Novartis Pharmaceuticals Canada Inc., a leader in the healthcare field, is committed to the discovery, development and marketing of innovative products to improve the well-being of all Canadians. In 2019, the company invested?$51.8 million?in research and development in?Canada. Located in?Dorval, Quebec, Novartis Pharmaceuticals Canada Inc. employs approximately 1,500 people in?Canada?and is an affiliate of Novartis AG, which provides innovative healthcare solutions that address the evolving needs of patients and societies. For further information, please consult?www.novartis.ca. About Novartis globally
Novartis is reimagining medicine to improve and extend people's lives. As a leading global medicines company, we use innovative science and digital technologies to create transformative treatments in areas of great medical need. In our quest to find new medicines, we consistently rank among the world's top companies investing in research and development. Novartis products reach more than 750 million people globally and we are finding innovative ways to expand access to our latest treatments. About 109,000 people of more than 145 nationalities work at Novartis around the world. Find out more at?www.novartis.com. Luxturna is a registered trademark of Spark Therapeutics Inc., used under license by Novartis Pharmaceuticals Canada Inc. References SOURCE Novartis Pharmaceuticals Canada Inc. For further information: Novartis Media Relations: Julie Schneiderman, +1 514 633 7873, E-mail:?camlph.communications@novartis.com

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