Experimental therapy by Retina UK-funded researchers leads to ‘life changing improvements’
Researchers who received funding from Retina UK have carried out experimental gene therapy that is reported to have led to ‘life changing improvements’ to sight for four children with inherited sight loss.
Doctors injected healthy copies of a defective gene into the back of the eye, very early in life, to treat a severe form of the condition caused by a mutation to a gene called AIPL1.
Before the therapy, the children were registered legally blind and only just able to distinguish between dark and light. After the infusion, all parents reported improvements - with some of their young children now able to begin to draw and write.
Scientists at University College London Institute of Ophthalmology, who had received funding from Retina UK through the charity’s Gene Team project, developed the innovative procedure.
Professor Robin Ali lead the Gene Team along with James Bainbridge and Michel Michaelides.
He said: “This is a significant step forward in our search for treatments which has been made possible, in part, thanks to Retina UK’s supporters who provided vital funds towards this innovative work through the charity’s Gene Team campaign."
Healthy copies of the gene were injected into the retina at the back of the eye through keyhole surgery.
These copies are contained inside a harmless virus, which goes through the retinal cells and replaces the defective gene. The healthy, working genes then kick start a process which helps the cells at the back of the eye work better and survive longer.
Unlike traditional scientific trials, families were offered this experimental therapy under a special licence designed for compassionate use, when there are no other options readily available and when the condition is very rare.
Professor Ali added: “This work demonstrates the importance of UK clinical academic centre manufacturing facilities and UK Medicines and Healthcare products Regulatory Agency Manufacturer’s ‘Specials’ Licences in making advanced therapies available to people with rare conditions.”
Children had one eye treated each - a measure taken in case the treatment had any adverse effects.
According to doctors, the results of the tests they completed, alongside the parent's reports of their improvements, give "compelling evidence" that all four benefited from the treatment and were seeing more than would be expected with the normal course of the disease.
The team plans to monitor the children to see how long-lasting the results are.
Tina Garvey, Chief Executive at Retina UK, said the news was incredibly exciting.
“This hugely encouraging news will bring hope to all those living with inherited sight loss conditions and their wider families. The genetic and progressive nature of these conditions leave those affected living with the knowledge that they may eventually lose their vision but not knowing how quickly changes will occur, causing anxiety, feelings of isolation and uncertainty about the future.
“We are proud to have provided funding to the team whose work led to this experimental gene therapy trial through our Gene Team fundraising campaign. This was only made possible thanks to the generosity of our charity’s supporters.
“While this trial brings great optimism, there is still much work to be done. At Retina UK we remain committed to supporting research into treatments until everyone who hears the devastating news that they have an inherited sight loss is also told a treatment is available.”
Read more about this story on the BBC website
Read more about the Gene Team