Mutation Specific RNA Therapy Improves Vision

According to researchers at the Scheie Eye Institute in the Perelman School of Medicine at the University of Pennsylvania, patients with a genetic form of childhood blindness gained vision, which lasted more than a year, after receiving a single injection of an experimental RNA therapy into the eye. The results of the trial are being funded by ProQR Therapeutics with additional support from the NIH and published in Nature Medicine, showed that the treatment led to marked changes at the fovea, the most important locus of human central vision.

The treatment was for patients diagnosed with Leber congenital amaurosis, an eye problem that primarily affects the retina, who have a CEP290 Mutation, which is one of the more commonly implicated genes in patients with the disease. Patients with this form of Leber Congenital amaurosis suffer from severe visual impairment.The researchers wrote that the Leber congenital amaurosis due to CEP290 ciliopathy is being explored by treatment with the antisense oligonucleotide sepofarsen. A patient who was part of a larger cohort was studied for 15 months after a single intravitreal sepofarsen injection.

Artur V. Cideciyan, Ph.D., a research professor of ophthalmology and co-lead author said that the results showed a new standard of what biological improvements are possible with antisense oligonucleotide therapy in LCA caused by CEP290 Mutation. They also established a comparator for currently ongoing gene-editing therapies for the same disease, which will allow a comparison of the relative merits of two different interventions.

There was an extension of vision durability improvement that was unexpected and provides implications for treating other ciliopathies, the name of the large category of diseases associated with genetic Mutation encoding defective proteins, which results in the abnormal function of cilia, a protruding sensory organelle found on cells.