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A man blinded by a degenerative genetic disease was able to partially recover his sight thanks to a technique combining gene therapy and light stimulation called optogenetic therapy. According to the researchers who conducted the clinical trial, this is the first time internationally that this innovative approach has been used in humans and that its clinical benefits have been demonstrated.
The first reported case of partial recovery of visual function
A 58-year-old man blinded by a degenerative genetic disease was able to partially recover his sight with optogenetic therapy. Suffering from retinopathy pigmentosa, a degenerative genetic disease of the eye causing progressive loss of vision that generally progresses to blindness, the patient was the subject of a clinical trial by a team of French, Swiss and American researchers. The results, published on Monday, May 24, 2021 in Nature Medecine, confirm that this is the world’s first reported case of partial functional recovery in neurodegenerative disease after optogenetic therapy.
Optogenetics, an innovative technique combining gene therapy and light stimulation
Optogenetics is an innovative approach combining gene therapy and light stimulation. Indeed, while he perceived only the presence of light, the therapy carried out on the patient now allows him to locate and touch objects. To achieve these results, the man with retinopathy pigmentosa was injected with a gene encoding a protein capable of detecting and reacting to amber light.
Once the injection was performed, the patient had to wait five months for his body to produce this protein in sufficient quantity before engaging in a series of exercises during which he was equipped with dedicated glasses. ” Seven months later, the patient began to report signs of visual improvement. […] With the help of the glasses, he can now locate, count and touch objects »Explain the researchers of the Institute of the Vision in a press release.
Towards a future therapy for people with retinopathy?
According to the European Orphanet database, retinopathy or retinitis pigmentosa affects one in 3,500 people. This degenerative genetic disease of the eye can begin at any age, although there is a greater frequency of occurrence between 10 and 30 years old. The first reported case of partial recovery of visual function from this clinical trial is therefore a potential hope for future treatments for people with retinopathy.
Professor José-Alain Sahel, founder in 2009 of the Institut de la vision, dedicated to diseases of the retina, explains: “ Blind people with different types of neurodegenerative photoreceptor diseases “But retaining” a functional optic nerve “Will be” potentially eleligible for treatment ”. However, the specialist explains that it will be necessary ” time before this therapy can be offered “. Meanwhile, Gensight Biologics, specializing in gene therapies for the treatment of neurodegenerative diseases of the retina, has announced the upcoming launch of a “ phase 3 trial to confirm the efficacy of this therapeutic approach “.