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 adultsand cause progressive vision loss, leading to complete blindness in almost all patients2. Luxturna is designed to provide functioning copies of theRPE65gene to act in place of mutatedRPE65genes2.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 Hon, 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 intgr universitaire de sant et de services sociaux (CIUSSS) de l'Est-de-l'le-de-Montral, affiliated with Universit de Montral 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 theRPE65gene2, 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."

AboutRPE65mutation-associated inherited retinal dystrophyMutations in both copies of theRPE65gene affect approximately 1 in 200,000 people and can lead to blindness5,6. 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 theRPE65gene may be diagnosed, for instance, with subtypes of either Leber congenital amaurosis or retinitis pigmentosa7.

About Novartis in Cell & Gene TherapyNovartis 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 CanadaNovartis 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 http://www.novartis.ca.

About Novartis globallyNovartis 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 http://www.novartis.com.

Luxturna is a registered trademark of Spark Therapeutics Inc., used under license by Novartis Pharmaceuticals Canada Inc.

References

1.

Novartis Pharmaceuticals Canada Inc. Luxturna(voretigene neparvovec) Product Monograph. October 13, 2020.

2.

Russell S et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65- mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. The Lancet 2017; 390:849-860

3.

RetNet. Summaries of genes and loci causing retinal diseases. Available at: https://sph.uth.edu/retnet/sum-dis.htm.

4.

National Institute for Health and Care Excellence (NICE). Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations [ID1054]2018:199/799

5.

Novartis. Data on file. 2018.

6.

Astuti GD et al. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. European Journal of Human Genetics 2016; 24: 107179.

7.

Morimura H et al. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proceedings of the National Academy of Sciences of the USA. 1998; 95: 308893.

SOURCE Novartis Pharmaceuticals Canada Inc.

For further information: Novartis Media Relations: Julie Schneiderman, +1 514 633 7873, E-mail: [emailprotected]

http://www.novartis.ca

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