A Penn Medicine patient 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 clinical trial was conducted by researchers at the Scheie Eye Institute in the Perelman School of Medicine. Results of the case, detailed in a paper published in Nature Medicine, show that the treatment led to marked changes at the fovea, the most important locus of human central vision.
The treatment was designed for patients diagnosed with Leber congenital amaurosis (LCA)—an eye disorder 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 LCA suffer from severe visual impairment, typically beginning in infancy.
“Our results set a new standard of what biological improvements are possible with antisense oligonucleotide therapy in LCA caused by CEP290 mutations,” says co-lead author Artur V. Cideciyan,a research professor of ophthalmology. “Importantly, we established a comparator for currently-ongoing gene editing therapies for the same disease, which will allow comparison of the relative merits of two different interventions.”
