by Kevin Burton
Been reading with joy, a small flood of stories about people having sight restored through gene therapy.
Voretigene neparvovec, sold under the brand name Luxturna, is a gene therapy medication for the treatment of Leber congenital amaurosis, according to Wikipedia. The US Food and Drug Administration approved Luxturna, in December of 2017, to treat children and adult patients with an inherited form of vision loss that may result in blindness.
Luxturna is the first directly administered gene therapy approved in the U.S. that targets a disease caused by mutations in a specific gene. Researchers quoted in the various articles said the therapy is more effective in children than for adults. But one man benefitted from the surgery in his 30s
“A 31-year-old Sligo man who was functionally blind has got his sight back, after being treated with a new gene therapy at the Mater University Hospital in Dublin,” wrote Fergal Bowers on the website of Raidió Teilifís Éireann, which is national public radio in Ireland.
“Stuart Haxell is the first patient to receive the ground-breaking ocular gene therapy treatment ‘Luxturna’ in Ireland,” Bowers wrote. “He was diagnosed with a very rare inherited retinal dystrophy and for 13 years was only able to see a small amount of light. He was treated in November and recently spoke for the first time about the return of his sight.”
“Haxell experienced significant improvement in his vision after about two weeks and said he was able to read again.
“For the first time in a decade I can see the world around me,” Haxell said.
“The treatment involves identifying patients with sufficient remaining retinal structure for treatment, removing the eye’s vitreous jelly, and administering an injection that creates a temporary retinal detachment, allowing the development of functional sight,” Bowers wrote. “The retinal cells produce an enzyme for the vision to be restored.”
“Four children born with a rare genetic form of severe blindness have all experienced significant improvements in their eyesight after being treated with an experimental new gene therapy,” wrote Holly Large of newsbreak.com
“‘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,’ said Professor Michel Michaelides, lead author of the new study describing the use of the therapy.”
“The children involved in the trial were all born with a severe form of retinal dystrophy. Associated with a deficiency of a gene called AIPL1 , it causes the rapid and progressive deterioration and death of cells in the retina, the light-sensitive layer at the back of the eye that sends signals via the optic nerve to the brain so we can see.” Large wrote.
“Sight impairment in young children has a devastating effect on their development,” said fellow study author Professor James Bainbridge. “Treatment in infancy with this new genetic medicine can transform the lives of those most severely affected..”
“The children, who were all aged between one and three years old when given the treatment, received the therapy in one of their eyes (this was a matter of safety). Over the course of the next three to four years, monitoring revealed that the visual acuity of all four children had “improved substantially,” the researchers wrote.
sleep, treatment, “It’s perhaps best heard from the parents of the children involved, though.,” Large wrote.
“After the operation, he was immediately spinning, dancing and making the nurses laugh,” said DJ, the mother of Jace, one of the four children treated. “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,” DJ said.
“Since the treatment was shown to be safe, the team has been administering the therapy to further affected children – and they are hoping it will one day prove feasible to make it more widely available,” Large wrote.
Haxell remembered being able to see better as a child, but that gradually his sight got worse.
“I haven’t gotten all my sight back, but the bit that I do have back it’s amazing,” he said. “It’s absolutely amazing, it’s something that I never thought would ever be possible.”
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