An international clinical trial conducted through the Perelman School of Medicine at the University of Pennsylvania helped a patient suffering from childhood blindness gain vision after a single injection of the experimental RNA therapy into the patient’s eye.
The potentially groundbreaking research was published in a paper in Nature Medicine on April 1.
During the trial, patients received intraocular injections, shots into the eye, of an antisense oligonucleotide known as sepofarsen, a small RNA molecule that targets the eye’s cone cells — which are responsible for color vision — to increase CEP290 protein levels and improving retinal functioning during the day.
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The potential treatment is aimed at patients who suffer from Leber congenital amaurosis (LCA), a rare and genetic eye disorder that affects the retina, and who also have a CEP290 mutation.
Typically, patients with LCA are blind or have a severe visual impairment starting in infancy.
In this study, one of the patients was followed for 15 months after the single injection. The patient’s sight improved after one month, peaked in two months, and continued to hold on to the improvement even at 15 months following the single injection.
“Our results set a new standard of what biological improvements are possible,” said Artur Cideciyan, the trial’s co-lead author and a research professor of ophthalmology at Penn Medicine’s Scheie Eye Institute.
For the trial’s authors, including co-lead author Samuel Jacobson, the long-ranging timeline of vision improvement following one injection gives them hope that RNA therapy will have similar impacts on other ciliopathies, or ocular genetic mutations with protein defections.
“This work represents a really exciting direction for RNA antisense therapy. It’s been 30 years since there were new drugs using RNA antisense oligonucleotides, even though everybody realized that there was great promise for these treatments,” said Jacobson.
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