Early data from a small trial indicate that CRISPR therapy administered directly into the eye could hold promise for treating the most prevalent form of inherited childhood vision loss.
Known as Leber congenital amaurosis (LCA), this condition typically manifests at birth due to dysfunction or loss of photoreceptor cells in the retina, caused by mutations in various genes, including centrosomal protein 290 (CEP290). Mutations affecting CEP290 are particularly common in LCA cases, contributing to impaired photoreceptor function.
LCA currently lacks a cure, but initial results from an early-stage trial, published on May 6 in The New England Journal of Medicine, suggest that CRISPR gene editing could safely enhance vision in some individuals with the condition. Dr. Mark Pennesi, a co-author of the study from Oregon Health & Science University, emphasized the significance of these findings, noting that while more research is necessary, the proof of concept is promising.
A notable aspect of the trial is its inclusion of the first individual to receive a CRISPR-based treatment directly into the body. Unlike the first approved CRISPR therapy, which involves removing and editing cells in a lab before reintroduction, this approach delivers the treatment directly into the body.
The trial involved 14 participants, all carrying the specific CEP290 mutation. They received a single injection of the CRISPR therapy, called EDIT-101, into the eye with the most significant vision loss. EDIT-101 works by guiding molecular scissors to the mutated CEP290 gene, enabling them to excise the faulty segment and restore function.
Vision tests conducted over the trial period revealed measurable improvements in 11 out of 14 participants, with six experiencing improvements in multiple tests. While the therapy cannot reverse cell loss, it offers hope for enhancing vision in affected individuals.
Further research, including trials involving a larger cohort, is necessary to validate these findings. The research team aims to explore the therapy’s efficacy in younger patients, potentially yielding even better outcomes.
