Scientists were able to bring back the vision of a patient suffering from a genetic form of childhood blindness for over a year with just one shot of experimental RNA therapy.
Reported first by MedicalXpress, the treatment was designed for people diagnosed with congenital Leber’s amaurosis (LCA), an eye disorder that affects the retina and who also have the CEP290 mutation., a gene that is generally linked to this disease. People who have this particular variety of stroke usually suffer from visual impairment from early childhood.
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Researchers at the Scheie Eye Institute at the Perelman School of Medicine at the University of Pennsylvania conducted a clinical trial in which they found that their experimental RNA treatment resulted in dramatic changes. to the fovea – an important area that allows central human vision.
In the study, (published in Nature Medicine), participants were injected with an antisense oligonucleotide called sepofarsen – a short RNA molecule known to increase CEP290 protein levels in photoreceptors in the eye, allowing for better retinal function and understanding daylight.
IIn a study published in 2019, researchers found how injections of sepofarsen given once every three months resulted in better visual ability in 10 patients. The 11th patient, however, received the injection only once and observed over a 15-month period.
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Prior to treatment, the patient experienced reduced visual acuity, short visual fields and poor night vision. However, after the first shot, scientists decided to suspend the quarterly maintenance shot as it could have caused cataracts. But scientists have seen massive improvements in the single shot administered.
While taking numerous measurements of visual function and retinal structure, they found that biological improvement was slow to take. They observed this after a month and after two months the patient’s vision peaked considerably. The researchers pointed out that the improvement in visual acuity remained for a good 15 months after the single injection.
Although this is unexpected, it has implications for the future treatment of other ciliopathies that can cause eyelashes to function abnormally – a hair-like strand pulling away from the cells.
Ophthalmology research professor Artur V. Cideciyan, who is also the lead co-author of the new study, said in a statement: “Our results set a new standard for the biological improvements possible with antisense oligonucleotide therapy in the ACL caused by CEP290 mutations. Importantly, we are establishing a comparator for gene editing therapies currently underway for the same disease, which will allow the relative merits of two different interventions to be compared. ”