Gene therapy yields 100x vision average improvement, with a few reaching 10,000x

Imagine going from near-total blindness to seeing the world in a whole new light – literally. That’s the reality for some participants in a recent gene therapy trial for LCA1, where vision improvements ranged from a 100-fold increase to a 10,000-fold jump. LCA1 (Leber Congenital Amaurosis 1) is a type of Leber Congenital Amaurosis that results from mutations in the GUCY2D gene. The study, published in The Lancet, found that “for patients who received the high dose, mean change in dark-adapted full-field stimulus test (FST) was 20·3 decibels (dB), equivalent to a 100-fold improvement, with improvements up to 46·5 dB (10,000-fold).” While decibels are commonly used to gauge sound, in this context they represent a logarithmic scale measuring the sensitivity of the retina to light, with higher decibels indicating better sensitivity and the ability to perceive dimmer light sources. There were a total of 15 patients enrolled.

Up to 10,000 improvement

“That 10,000-fold improvement is the same as a patient being able to see their surroundings on a moonlit night outdoors as opposed to requiring bright indoor lighting before treatment,” said the study’s lead author, Artur Cideciyan, Ph.D., a research professor of Ophthalmology and co-director of the Center for Hereditary Retinal Degenerations, in a press release. Cideciyan goes on to say that one patient was able to navigate outdoors at midnight “only with the light of a bonfire.”

The gene therapy ATSN-101 targets the faulty GUCY2D gene responsible for LCA1 by delivering a functional copy directly to the retina’s photoreceptor cells.

A single injection

The gene therapy ATSN-101, delivered via a single injection under the retina, has emerged as a potential game-changer for individuals with LCA1, a rare inherited retinal disease that typically leads to severe vision loss from infancy. As The Lancet article notes, ATSN-101 targets the faulty GUCY2D gene responsible for LCA1 by delivering a functional copy of the gene directly to the photoreceptor cells in the retina. The results of the Phase 1/2 clinical trial appeared to be durable

“Improvements in eyes treated at the high dose relative to fellow untreated eyes were observed on day 28 and persisted through to month 12,” the study notes.

---

Filed Under: Ophthalmology
Tagged With: clinical trial, gene therapy, GUCY2D mutation, LCA1, Ophthalmology, pharma biotech, retinal disease
 

---