Genetic therapy to restore sight will be offered at the Montreal...

and immediately 2020

Dozens of young patients will be among the first in Canada to benefit from this treatment, which slows down the progressive loss of vision.

Source : CUSM

Restoring vision to people with certain hereditary retinal diseases thanks to a new gene therapy will soon be possible at the McGill University Health Center (MUHC), in particular thanks to the long-term work of Dr. Robert K. Koenekoop, director of the Pediatric ophthalmology at the Montreal Children’s Hospital (MCH) of the MUHC. Health Canada has approved Luxturna® treatment, the first gene therapy in Canada for the treatment of patients with inherited diseases of the retina caused by the gene mutation RPE65 such as congenital Leber’s amaurosis and retinitis pigmentosa. It is the first treatment for these devastating diseases, which represents a giant leap in the field of personalized medicine. This will not only allow these people to partially recover their vision, but also to give them back their autonomy.

Dr. Koenekoop, also professor of pediatric surgery, human genetics and ophthalmology at McGill University, points out that the announcement is the culmination of more than 20 years of intensive research. Dr. Koenekoop’s research has been supported by the Montreal Children’s Hospital Foundation and Fighting Blindness Canada for over 20 years.

Hereditary diseases of the retina are common conditions that affect one in 2,000 people. Incurable and debilitating, they cause progressive loss of vision and loss of autonomy in people with the disease. The services currently available to patients – primarily, disease progression monitoring, psychological support, mobility assistance and visual rehabilitation – do not include therapeutic treatment and do not address the underlying causes of disease. These important services will remain crucial as they will help the treated patients adjust to their new vision.

The results of clinical trials that took place from 2005 to 2019 show that Luxturna® considerably improves vision, clarity, night vision and helps to slow down, or even interrupt, the progressive loss of vision in patients with hereditary diseases. of the retina due to the gene RPE65 defective. Dr. Koenekoop is monitoring nearly 40 patients at the Children’s who would be potential candidates to receive this new treatment which specifically targets this gene. In Canada, nearly 115 patients could currently benefit from it.

Luxturna® is a single treatment which consists of a single surgical injection in which a functional copy of the gene is directly introduced into the cells of the patient’s retina in order to replace the defective gene. The patient must first have a screening test to confirm the presence of mutations in the gene RPE65 in addition to having enough viable retinal cells. The functional gene will produce the protein that was previously deficient. This protein allows retinal cells to regenerate and become functional again, that is, they will be able to pick up light again.

“As an attending physician and researcher dedicated to finding solutions and treatments for inherited retinal diseases, I am very excited about the hope that Luxturna® brings to patients with retinal dystrophy associated with a gene mutation. RPE65 confirmed and at risk of becoming blind. The progressive loss of sight in young children and adults is devastating in all aspects of their lives as their independence is reduced and dependence on a caregiver increases. The future is bright, as more and more genetic therapies will be developed to treat inherited retinal diseases, ”says Dr Robert Koenekoop. “Research on gene editing, three other gene therapies, stem cells and drugs is well advanced in terms of bench-to-bedside research. », He adds.

A result from multidisciplinary teams

This treatment was created thanks to the collaboration of multidisciplinary teams from the Montreal Children’s Hospital in association with the Maisonneuve-Rosemont Hospital in Montreal, the Hospital for Sick Children (SickKids) in partnership with Sunnybrook Health Sciences Center, in Ontario , as well as Novartis Pharmaceuticals Canada Inc. who, as part of their commitment to cell and gene therapy, brings Luxturna to Canada.

Luxturna is the first gene therapy to be approved by the Food and Drug Administration (FDA) and has been available since 2017 in the United States.

About the disease

Hereditary diseases of the retina are a group of conditions that cause macular degeneration leading to complete blindness in those affected. They cause loss of light sensitivity, sharpness, clarity, and reduced peripheral vision. They are caused by genetic mutations in more than 270 genes, including the RPE65 gene.

About Dr. K. Koenekoop

Dr Koenekoop has 25 years of experience as a clinician-scientist. He is a senior scientist in the Child Health and Human Development Program at the Research Institute of the MUHC. His research focuses on identifying the genes that cause hereditary retinal dystrophies and their treatments. Currently, Dr. Koenekoop is conducting numerous clinical trials for the treatment of inherited retinal diseases and is a strong advocate for patients and for the implementation of these sight-saving treatments in Canada. He is part of a new group of therapists, researchers and clinicians in genetics at the Montreal Children’s Hospital and the Research Institute of the MUHC. This group, led by Drs John J. Mitchell, Geneviève Bernard, Maryam Oskoui, Nancy Braverman and Sam Daniel among others, studies and develops genetic therapies for children suffering from genetic diseases such as lysosomal diseases (Hunter’s syndromes and Hurler, for example), neurodegenerations, spinal disc degeneration, peroxisomal disease, hearing loss and more. This group is currently planning the creation of a center of excellence in genetic therapy for children in Montreal, supported by the Montreal Children’s Hospital Foundation through a major fundraising campaign.

October 15, 2020