Researchers at University College London (UCL) developed a study claiming that gene therapy partially restored the function of receptors retinal cone in two children who were born completely color blind.
Findings published in Brain, give hope that treatment effectively activates previously dormant communication pathways between the retina and the brain, using the plastic nature of the developing adolescent brain.
An academic study was conducted in parallel with a phase 1/2 clinical trial in children with achromatopsia, using a novel way to test whether treatment alters certain neural pathways in cones.
Achromatopsia is caused by disease-causing variants of one of several genes. It affects cones, which (along with rods) are one of two types of photoreceptors in the eye.
Since cones are responsible for color vision, people with achromatopsia are completely colorblind, generally have very poor vision, and are uncomfortable in bright light (photophobia). Their cones do not send signals to the brain, but many of them remain, so the researchers tried to activate dormant cells.
Breakthrough in science to improve eye health
Lead author Dr. Tessa Dekker, of the UCLA Institute of Ophthalmology, said: “Our study is the first to directly support the widely held suggestion that gene therapy offered to children and adolescents can successfully activate dormant cone photoreceptor pathways and cause visual cues never before experienced by these cones. Patients”.
“We are demonstrating the potential to exploit our brain plasticity, which may be especially able to adapt to the effects of treatment when people are young.”
The study four young people with achromatopsia aged 10 to 15 participated, who took part in two trials led by Professor James Bainbridge of UCL and Moorfields Eye Hospital sponsored by MeiraGTx-Janssen Pharmaceuticals.
Two trials are testing gene therapy that targets specific genes known to be involved in achromatopsia (each of the two trials targets a different gene).
Their main goal is to prove that the treatment is safe, as well as improve vision. Their results have not yet been fully compared, so the overall effectiveness of the treatment remains to be determined.
Source: La Opinion
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