A Connecticut boy is among four children all born with severe childhood blindness who gained “life-changing improvements” to their vision after an experimental trial of gene therapy.
Jace was just 2-months-old when his mother DJ and father Brendan noticed problems with his eyesight. “Around 8 weeks old when babies should start looking at you and smiling, Jace wasn’t doing that yet,” DJ told the BBC in an interview posted on Thursday, Feb. 20.
DJ had a feeling that there was a bigger issue with her son’s vision so she spent the following 10 months doing research and visiting a number of doctors.
After several tests, Jace was diagnosed with an aggressive form of leber congenital amaurosis (LCA), a rare genetic condition that affects how the retina is developed and causes babies to be born blind or with low vision. LCA is caused by a mutation to the AIPL1 gene and there is no established treatment.
“It was a shock,” Brendan said of his son’s diagnosis. “You never think it’s going to happen to you, of course, but there was a lot of comfort and relief to finally find out… because it gave us a way to move forward.”
Jace and his dad Brendan.
Courtesy of Moorfields Hospital
Shortly after, DJ and Brendan connected with Michel Michaelides, a consultant eye surgeon at Moorfields Eye Hospital in London and professor at the UCL Institute of Ophthalmology. The “chance encounter” with the U.K. retinal specialist led to Jace being selected for the pioneering gene therapy trial.
“We wanted to give him everything we could for him to successfully navigate the world,” Brendan said in a press release from the hospital.
According to Moorfields Eye Hospital, the procedure consists of injecting healthy copies of the defective gene into the back of the eye, very early in life, in order to treat severe forms of the condition.
The experimental surgery was only done in one eye in order to mitigate any potential safety issues.
Jace’s surgery, which he had when he was 2, was quick and “pretty easy,” his mother said. And within a month, the toddler had remarkable improvement in his vision.
“After the operation, Jace was immediately spinning, dancing and making the nurses laugh,” DJ said. “He started to respond to the TV and phone within a few weeks of surgery and, within six months, could recognize and name his favorite cars from several meters away; it took his brain time, though, to process what he could now see. Sleep can be difficult for children with sight loss, but he falls asleep much more easily now, making bedtimes an enjoyable experience.”
“The results are nothing short of spectacular,” Brendan added.
It is unclear whether Jace, now 6, will require additional treatment in the future. However, his parents said they feel lucky to have been given the treatment at all.
The results of the new treatment have since been reported in the Lancet medical journal, showing the dramatic and “life-changing improvements” to vision from the gene therapy for all four toddlers. Scientists are now exploring means to make the new treatment more widely available.
“We have, for the first time, an effective treatment for the most severe form of childhood blindness, and a potential paradigm shift to treatment at the earliest stages of the disease,” Michaelides said in a statement. “The outcomes for these children are hugely impressive and show the power of gene therapy to change lives.”
