CRISPR Gene Editing Leads to Improvements

Positive results from a phase I/II clinical trial of CRISPR gene editing have been found in participants with Leber Congenital Amaurosis (LCA), caused by mutations in the centrosomal protein 290 (CEP290) gene. LCA is an inherited eye condition that appears at birth or in the first few months of life, affecting both peripheral and central vision.

The clinical trial, called BRILLIANCE involved 14 participants including 12 adults (aged between 17 and 63) and two children (aged 10 and 14). Participants  received a single injection of  the CRISPR gene editing therapy into the back of the eye.

The trial aimed to test the safety and effectiveness of the therapy.  CRISPR is a gene editing toolkit which acts as a guided scissor to cut a portion of the mutated genome to leave a functional gene.  For inherited sight loss, CRISPR is injected to reach the eye’s retina with the hope it can restore the ability of the gene to produce the  healthy protein responsible for vision. The trial marks the first time gene editing has been shown to lead to improvements in the human eye.

Results showed that 11 out of the 14 participants had meaningful improvements in vision with no adverse effects. For instance, one participant stated they were able to find their phone after losing it, whereas this would have been impossible for them before treatment. However, such findings establish proof of concept only which were derived from a small, early phase trial. More testing over several years is required. It is unknown where and when the next phase of the trial will take place and considering there are funding hurdles to overcome, another trial may not be anytime soon.

Nevertheless, these findings support the continuation of research on gene editing therapy for retinal disease.