For her entire life, college student Olivia Cook had only a small degree of central vision. It was as if she was watching the world through a straw hole, and in dimly lit places, she could not make out people’s faces, only their silhouettes.
But after receiving an experimental gene-editing treatment to one of her eyes, she now can see things she never saw before.
Cook was born with an inherited retinal disorder that causes blindness, a rare type of eye disorder historically called Leber congenital amaurosis or LCA. A few years ago, she decided to participate in a clinical trial that involved using the gene-editing tool CRISPR to correct the form of inherited blindness that she has.
“My life has mostly changed in terms of being hopeful that there is going to be more science and findings in the future,” said Cook, 22, who is currently studying marketing and product development at Missouri State University in Springfield. She received the experimental gene-editing treatment through a surgery performed on her left eye.
“Now, post-surgery and post recovery, I am able to see in dimmer lighting with my left eye,” Cook said.
A treatment that used CRISPR was found to be safe and efficacious in improving vision among a small sample of patients with inherited blindness in the Phase 1/2 clinical trial that Cook participated in. Inherited retinal degenerations are a leading cause of blindness around the world.
Courtesy JR Lubin and Fabienne Desir
Among a total of 14 volunteers, including Cook, the gene-editing tool was found to be associated with a “meaningful improvement” in vision for most patients around three months later and it was not directly tied to any serious side effects, according to the trial results, published Monday in the New England Journal of Medicine. The therapy remains experimental and the results need to be replicated in a larger group of people.
Months following the treatment, Cook was sitting with friends on a balcony that had Christmas lights wrapped around the railing. It was dusk, she recalled, yet she could see her friends’ faces glow under the twinkling Christmas lights. She was shocked.
“With my right eye, I was not able to see their facial features. I was only able to see their silhouette. With my left eye, I could see everything on their face – so, significant difference, especially in the dim lighting,” Cook said about that evening.
“One of the biggest ‘aha moments’ that I had was I had been talking to my mom one day after the surgery – it was about six to nine months after the surgery when I noticed most of my improvement,” Cook said.
“I could see a candle flickering behind me, which I’ve never seen that before,” she said. “I’d never picked up anything from over there before with the peripheral.”