New Gene Therapy Restores 8-Year-Old Boy’s Sight
An innovative gene replacement therapy helped restore an eight-year-old’s eyesight and allowed him to see stars for the very first time.
Sam, from Toronto, Canada, was diagnosed after birth with a genetic disorder called retinitis pigmentosa, a rare form of genetic retinal degeneration which left him unable to see in poor lighting conditions.
Throughout his childhood, Sam has been unable to see the sky on a cloudy day, unable to make out shapes in the dark and had trouble seeing his shoes or objects on the floor. He always had to have lights on, and his condition meant he would bump into things in the night.
You can hear more about Sam’s condition, and his treatment, below:
The condition is progressive, meaning things would get worse with age if it wasn’t treated, which previously hasn’t been available.
Speaking about Sam’s situation to CTV, Dr. Elise Heon of Sick Kids Hospital explained:
You lose perception of light. You end up in darkness and [it’s] slowly progressive, it’s relentless, your visual field shrinks and shrinks and shrinks and shrinks.
Retinitis pigmentosa (RP) refers to a group of disorders, with scientists having identified more than 64 genes which potentially have mutations that cause RP. The condition affects between 1 in 3,500 to 1 in 4,000 Canadians, according to Fighting Blindness Canada.
In an effort to tackle this form of blindness, Canada has approved the first-ever gene replacement therapy that can be used on children and adults specifically with biallelic mutations of the RPE65 gene, meaning they have mutations in that gene stemming from both parents.
Doctors believe the earlier the drug is used, the more sight it will save.
They’re 10 years old, and they’re losing their vision. If we do nothing, they’re just going, fine, they’ll just end up with no light reception. So for the first time [we were] able to say, well, actually we need to have a discussion. And it was just, it was priceless.
It’s a huge deal, because for these patients before, there’s no treatments.
The drug works by placing a copy of the healthy gene into inactivated viruses, which are injected into the retina. Cells are then able to produce the necessary protein to convert light into an electrical signal in the retina, prompting healthy vision and preventing progression of the disease.
The gene therapy, which goes by the brand name Luxturna, was developed in the US and became the first targeted gene therapy to be approved by Health Canada this week.
Sam travelled to the US to receive the treatment last year, before it became available in Canada, and his mum Sarah quickly started to see changes.
About a week later, I noticed he could get dressed by [himself]. He could get his shoes on by himself, independently.
He is so much more confident. 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. This is a story of hope.
Commenting on his improving eyesight, Sam added:
I never saw stars before. And I also never saw airplanes flying at night.
Dr. Peter Kertes, a vitreo-retinal surgeon and Ophthalmologist-in-Chief at Sunnybrook Health Sciences Centre, described the treatment as ‘once in a generation’.
Speaking to CTV News, he said:
This is a huge breakthrough. Most of the advances that we have in medicine are incremental. Every once in a while… something revolutionary like this comes along that really changes the course of therapy.
Though Luxturna only tackles one condition, Kertes has said it will open the door for similar strategies to be used in other scenarios.
The therapy is currently under review by both the Canadian Agency for Drugs and Technologies in Health (CADTH) and the Institut national d’excellence en santé et en services sociaux (INESSS).
Novartis Pharmaceuticals Canada Inc., the company licensing the therapy, said it is looking forward to ‘receiving their recommendations following Health Canada’s approval.’
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