Gene replacement therapy Luxturna® now reimbursed in Ontario for adult and pediatric patients with a rare form of inherited vision loss

• Ontario joins Quebec, Alberta and Saskatchewan to fund gene-based treatment for previously untreatable genetic retinal conditions¹
  
  
• Luxturna^® is the first and only pharmacological treatment for an inherited retinal disease designed to help improve functional vision in patients with RPE65-mediated inherited retinal dystrophies (IRDs)

DORVAL, QC, March 1, 2023 /CNW/ - Novartis Pharmaceuticals Canada Inc. is pleased to announce that Luxturna^® (voretigene neparvovec) is now funded by the Ontario government for the treatment of adults and pediatric patients with vision loss due to inherited retinal dystrophy caused by confirmed mutations in both copies of the RPE65 gene and who have sufficient, viable retinal cells.

"Our government is proud to fund the first gene therapy to fight blindness and treat Ontarians living with inherited retinal disease," said Sylvia Jones, Deputy Premier and Minister of Health. "With this first effective treatment for those living with inherited vision loss, this therapy will support individuals suffering from this rare disease and their families."

"This is the good news patients, families and the Ontario vision loss community have been eagerly waiting for. Prior to the arrival of Luxturna^®, progressive and irreversible vision loss was the inevitable end result for RPE65 retinal degeneration," said Dr. Larissa Moniz, Director, Research and Mission Programs, Fighting Blindness Canada. "We are delighted that the Ontario government has recognized the need for public access and has prioritized public funding for this important therapy that brings new hope and a chance for improved vision."

Inherited retinal dystrophies (IRDs) are a group of rare, progressive, genetic conditions¹ that typically manifest in childhood or young adulthood². IRDs have a profound impact on quality of life and independence and can lead to total blindness. Luxturna^® is injected into the subretinal space where it provides functioning copies of the RPE65 gene to act in place of the mutated RPE65 genes³.

"This is an exciting development and I am thrilled to now have the opportunity to deliver this life-changing therapy to children and adults with who are affected by RPE65 mutations. We now have the chance to treat patients with the goal of preventing disabling vision loss," said Dr. Peter Kertes, the past Ophthalmologist-in-Chief at Sunnybrook Health Sciences Centre and a vitreo-retinal surgeon at Sunnybrook and The Hospital for Sick Children (SickKids) in Toronto.

Prior to Luxturna^® the only treatment options for RPE65-mediated IRDs were supportive⁴. 

"Novartis is proud to play a part in helping to change the outlook on IRDs and, for the first time, giving physicians the tools they need to treat patients in the best possible way. We are pleased that Ontario is making this much-needed treatment option available, bringing optimism and hope to children and young adults in need," said Andrea Marazzi, Country President, Novartis Pharmaceuticals Canada Inc. "Our goal is to ensure that all eligible patients in Canada have the same opportunity."

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 retinitis pigmentosa or Leber congenital amaurosis⁷.

About Novartis in Gene Therapy and Rare Disease 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
Novartis is reimagining medicine to improve and extend people's lives. We deliver high-value medicines that alleviate society's greatest disease burdens through technology leadership in R&D and novel access approaches. In our quest to find new medicines, we consistently rank among the world's top companies investing in research and development. About 106,000 people of more than 140 nationalities work together to bring Novartis products to nearly 800 million people around the world. Find out more at www.novartis.com

In Canada, Novartis Pharmaceuticals Canada Inc. employs approximately 900 people to serve the evolving needs of patients and the healthcare system and invests over $30 million in R&D yearly in the country. We pride ourselves on our commitment to diversity and inclusion. We are recognized as a Great Place to Work^®, and ranked among the Top 50 Best Workplaces™, 2022 Best Workplaces™ for Women, for Giving Back, and for Hybrid Work in Canada. For more information, visit www.novartis.ca

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

References
1.	Patel U BM, de Léséleuc L, et al. Voretigene Neparvovec: An Emerging Gene Therapy for the Treatment of Inherited Blindness. CADTH Issues in Emerging Health Technologies Ottawa (ON): Canadian Agency for Drugs and Technologies in Health; 2016. 2018 (169).
2.	Gong J, Cheung S, Fasso-Opie A, Galvin O, Moniz LS, Earle D, Durham T, Menzo J, Li N, Duffy S, Dolgin J, Shearman MS, Fiorani C, Banhazi J, Daly A. The Impact of Inherited Retinal Diseases in the United States of America (US) and Canada from a Cost-of-Illness Perspective. Clin Ophthalmol. 2021 Jul 1;15:2855-2866. doi: 10.2147/OPTH.S313719. PMID: 34234408; PMCID: PMC8257071.
3.	Novartis Pharmaceuticals Canada Inc. Luxturna^® (voretigene neparvovec) Product Monograph. April 20, 2022.
4.	Maguire AM, Bennett J, Aleman EM, Leroy BP, Aleman TS. Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy. Mol Ther. 2021 Feb 3;29(2):442-463. doi: 10.1016/j.ymthe.2020.11.029. Epub 2020 Dec 3. PMID: 33278565; PMCID: PMC7854308.
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: 1071–79.
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: 3088–93.

SOURCE Novartis Pharmaceuticals Canada Inc.

Novartis Media Relations: Karla Fuentes Arellano, Novartis Pharmaceuticals Communications, + 1 514 633 7873, E-mail: [email protected]