CRISPR: first results from in vivo vision restoration study

Scientists have just published [1] the first results from a study using the gene-editing tool CRISPR administered in vivo to restore vision in people suffering from a rare form of hereditary or congenital blindness (see CRISPR: First In Vivo Trial in the US). They say the study is the first to use gene therapy to treat children born with this form of blindness.

Study on 14 patients

Test called BRILLIANCE, targeting 12 adults and 2 children with Leber congenital amaurosis. This condition affects approximately one in 40,000 people and causes severe vision loss at an early age. It is caused by a genetic mutation that prevents the protein CEP290necessary for vision to play its role.

Study participants received a single dose of a gene therapy called EDIT-101. The treatment removes the causative mutation and reinserts the DNA strand.” healthy ” in the gene that allows the retina to detect light again. Studying BRILLIANCE Participants were tested on their ability to see colored lights, navigate a small maze under different lighting conditions, and read a blackboard.

Overall positive results

Of the 14 patients included in the study, 11 experienced improvement in vision without serious side effects, the researchers said. However, some patients have reported mild side effects that absorbs quickly “.

” These were people who couldn’t read the lines on an eye chart and had no treatment options, which is the sad reality for most people with inherited retinal diseases. “, Eric Pierce of Harvard Medical Schoolwho led the study.

To date, only one CRISPR therapeutic has been approved for clinical use. Kasjevy (see CRISPR therapy: green light from Europe after UK and US). Clinical trials are currently underway to test other CRISPR treatments for AIDS, diabetes, cancer, cardiovascular disease and antibiotic resistance (see HIV: First patient treated with CRISPR; ‘Killing’ cancer with CRISPR?).

[1] Eric A. Pierce et al., Gene editing in CEP290-associated retinal degeneration, New England Journal of Medicine, May 6, 2024, DOI: 10.1056/NEJMoa2309915

Source: DW, Fred Schwaller (05/06/2024).