Gene Replacement Treatment Restores 8-Year-Old Boy's Vision

An 8-year-old boy is the first Canadian to have his vision restored via gene replacement treatment. And now, not only can he see cloudy skies but even stars at night.

Sam has a genetic disorder called retinitis pigmentosa. His condition is a rare form of genetic disorder that causes the gradual loss of cells in the retina - the light-sensitive tissue found at the back of the eye. It affects between 1 in 3,500 and 1 in 4,000 Canadians.

This condition is often diagnosed during childhood or adolescence; however, some would develop it later in life. Because of his condition, Sam can't see the sky on a cloudy day and can't recognize shapes in the dark.

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A relentless and progressive condition

Speaking to CTV News, he said that sometimes he bumps into things because he couldn't see whenever he walks in the night. So, the lights need to be always turned for him. Aside from poor night vision, the condition is also progressive. It gets worse and worse as he grows older unless he gets treatment as soon as possible.

As Dr. Elise Heon of Sick Kids Hospital describes it, the condition causes a person to lose perception of light. So he ends up in darkness, slowly and progressively. It is relentless, she said, as the visual field of the person with this genetic disorder shrinks and shrinks.

There was no cure available in Canada then

In 2019, Sam traveled to the U.S. with his family to get gene therapy because the treatment was not yet approved in Canada at the time. According to his mom, Sarah Banon, they noticed changes to Sam's vision very quickly. In fact, it only took about a week to notice that he could already get dressed by himself and get should his shoes on without anybody's help.

His condition continued to improve in the year since he first got the gene replacement treatment. Sam is much more confident now, his mother said. He can now dress alone, match clothes. He can also see even at night when the lights are turned off and cloudy outside. He now lives and functions like a "normal child."

His therapy's success provides hope to other Canadians with the same condition

Thanks to the success of the therapy on Sam, Canada has now approved the first-ever gene replacement therapy for retinitis pigmentosa. This decision is a huge deal, CTV News noted, given that there was no treatment available for this disease before in Canada. Now, this treatment will be available both for children and adults. However, experts say that the sooner the treatment is used, the more the eyesight will be saved.

The gene replacement therapy works by copying a healthy gene and placing it into inactivated viruses. These are then injected into the affected retina. The cells in the retina produce the needed protein to convert light into electrical signals. The result is a healthier vision, and the disease's progression is prevented.

Experts say that gene therapy's approval is a huge step forward as it gives a lot of hope to people living with blindness or is suffering from blindness. The gene therapy will also open the door to other possible uses in the future. For now, it is an expensive cure, but unlike other drugs, it will be a one-time treatment, and you change someone's life forever.

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