The gene therapy helps treat retinitis pigmentosa, a form of genetic retinal degeneration resulting from mutations in the RPE65 gene.
Eight-year-old Sam is a beacon of hope for those at risk of their eyesight. Born with a rare form of blindness that left him unable to see the sky on a cloudy day or determine shapes in the dark, the young lad now has a renewed appreciation for the world around him thanks to a pathbreaking gene replacement therapy. The gene therapy—which goes by the brand name Luxturna—was developed in the US by the drug company Spark Therapeutics and helps treat retinitis pigmentosa which is a form of genetic retinal degeneration resulting from mutations in the RPE65 gene.
Stories like this are the reason we're urging @HSELive to reimburse gene therapy Luxturna. Sam (8) is the first Canadian to receive Luxturna: “This is a story of hope, a child told 'it is what it is'. And now, when he looks up at night, he can see stars." https://t.co/V0ZieocX1C pic.twitter.com/hmXoUVEUft— Fighting Blindness (@fight_blindness) October 15, 2020
According to CTV News, Sam was diagnosed with retinitis pigmentosa after birth and had to have lights on always as he had trouble seeing his shoes or objects on the floor. "Sometimes you have to walk in the night and I couldn’t see things and you bump into things," the youngster explained. His eyesight was expected to get worse with age as it is a progressive condition and without any form of treatment available, it was an extremely daunting prospect for his parents. "You lose perception of light," explained Dr. Elise Heon, of Sick Kids Hospital. "You end up in darkness and [it’s] slowly progressive, it's relentless, your visual field shrinks and shrinks and shrinks and shrinks."
Get a refresher on the basics of retinitis pigmentosa, from genetics and natural history to signs and symptoms, testing, and imaging. [AAO Members] https://t.co/lDvUPsOVmM— AAO (@aao_ophth) June 4, 2020
However, thanks to the innovative gene replacement therapy, Sam can now see cloudy skies, his shoes, and more. "I never saw stars before," he said. "And I also never saw airplanes flying at night." The young boy became the first Canadian to be treated with the new gene therapy in 2019 when he and his family traveled to the U.S. for it since it wasn’t available in Canada yet. Sam's mother, Sarah Banon, revealed that she quickly began noticing changes in her son.
Eight-year-old Sam is a beacon of hope - the first Canadian to be treated with gene replacement therapy for a rare form of blindness.@CTV_AvisFavaro has the exclusive details in tonight's newscast. pic.twitter.com/pQvcbKO14L— CTV National News (@CTVNationalNews) October 15, 2020
"About a week later, I noticed he could get dressed by [himself]," she said. "He could get his shoes on by himself, independently." In the year since he first received the gene therapy, his sight has drastically improved. "He is so much more confident," said Banon. "Like getting dressed by himself, matching clothes, doesn't have to have things enlarged. Being able to [see], even when it’s dark outside, no lights on and it is a cloudy day. He would have to, at school, keep the lights on. Now he is able to function as a normal child."
For the thousands of Canadians at risk of blindness, eight-year-old Sam is a beacon of hope.@CTV_AvisFavaro has the exclusive details on the first Canadian to be treated with gene replacement therapy for a rare form of blindness.— CTV National News (@CTVNationalNews) October 15, 2020
Full story: https://t.co/labGkLOCCM pic.twitter.com/0Ydjc6velV
Sam's incredible recovery provides immense hope to other Canadians with this condition as the country has now greenlit the gene replacement therapy. It is the first targeted gene therapy to be approved by Health Canada, which gave it the all-clear this week. "It's a huge deal because, for these patients before, there [were] no treatments," said Dr. Heon. Luxturna works by placing a copy of the healthy gene into inactivated viruses, which are then injected into the retina. The gene allows cells to produce the necessary protein to convert light into an electrical signal in the retina thereby providing healthy vision and preventing the progression of the disease.
Dr. Peter Kertes, a vitreoretinal surgeon and Ophthalmologist-in-Chief at Sunnybrook Health Sciences Centre, said the approval of the therapy is "fantastic" and "a huge breakthrough." He added: "Most of the advances that we have in medicine are incremental. Every once in a while, once in a generation, something revolutionary like this comes along that really changes the course of therapy. This is the tip of the iceberg. I think this is a vector that will prove to be very effective and holds great promise. I think many people who are living with blindness or facing blindness, have much to look forward to. I think we're on the cusp of a revolution in this group of diseases."