Revolutionary Gene Therapy Restores Sight to Child with LCA

Revolutionary Gene Therapy Restores Sight to Child with LCA

May 30, 2023

In a remarkable medical breakthrough, two retinologist surgeons at the Maisonneuve-Rosemont Hospital ophthalmology clinic have successfully performed groundbreaking gene therapy on an 11-year-old boy, offering hope to patients suffering from degenerative, genetic eye diseases.

The surgery, conducted on William Khayrallah, is not only the first of its kind in Quebec but also the first publicly funded gene therapy operation in Canada.

The surgery, which took place two weeks apart, involved administering Luxturna, a cutting-edge gene therapy drug developed in the United States. Luxturna aims to reverse Leber congenital amaurosis (LCA), a rare genetic disorder that could potentially lead to complete blindness. By targeting the underlying genetic mutation responsible for the disease, Luxturna offers a promising solution to restore sight to affected individuals.

The initial surgery took place on May 18, with the surgeons performing the procedure on William's right eye. This groundbreaking operation marked a significant milestone in Canadian medicine, as it provided a beacon of hope for individuals suffering from LCA and other similar conditions. The surgical team meticulously followed a carefully planned approach to ensure the success of the procedure and maximize the chances of a full recovery.

Following the successful outcome of the first surgery, the second operation was conducted on May 29 to administer Luxturna to William's left eye. The surgeons aimed to provide the young patient with the best possible chances of regaining functional vision in both eyes.

“To convert an untreatable disease into a treatable disease, for a physician in their lifetime in their career, it’s very rare,” said Dr. Flavio Rezende, an ophthalmologist and retinologist surgeon.

Since infancy, William has battled with Leber's congenital amaurosis, a severe variant of inherited retinitis pigmentosa resulting from a mutation in the RPE65 gene. Even during his early years, William faced challenges associated with his impaired vision. Nighttime proved especially daunting, as he struggled to see clearly in low light conditions. Moreover, his daily activities, including sports like badminton, tennis, and soccer, presented additional obstacles due to the difficulty in tracking and perceiving the movements of the ball.

“I think for the child and the family when they first find out, it’s a very devastating diagnosis because in the past it was untreatable,” said Dr. Cynthia Qian, one of Khayrallah’s surgeons. “It leads to difficulties in vision in the dark at first, but over time this can continue to decrease to affect daytime vision. Children can continue losing vision into adulthood and it can become very severe. In severe cases, it can become full darkness.”

In the autumn of last year, the Quebec government granted approval for the utilization of gene therapy treatment in patients. This groundbreaking surgical procedure is complex and, at present, exclusively performed at the esteemed ophthalmology center of Maisonneuve Rosemont. Renowned as one of the foremost institutions in North America for addressing eye-related conditions, their specialized expertise enables them to undertake this advanced medical intervention.

“This is the first in the province of Quebec. It’s also the first gene therapy approved to completely reverse the disease at source. What we are able to do is to inject and surgically impact the gene in the patients affected in order to correct the genetic error and to re-establish the normal function of vision, and not only stabilize the vision but also keep it at a long-term permanent level.”

Stay in the loop and make sure not to miss real-time breaking news about ophthalmology. Join our community by subscribing to OBN newsletter now.