2024-05-06 20:57:56
Researchers have just published [1] the first results of a study with the CRISPR gene-editing tool administered in vivo, to restore sight in people suffering from a rare form of hereditary or congenital blindness (cf. CRISPR: first in vivo trial in the US). This study is the first to use gene therapy to treat children born with this form of blindness, they say.
A trial of 14 patients
The test, called BRILLIANCE, focused on 12 adults and 2 children with Leber congenital amaurosis. This pathology affects approximately one in 40,000 people and causes severe vision loss at an early age. It is caused by a genetic mutation that hinders the protein CEP290essential for vision, to play its role.
Study participants received a single dose of a gene therapy called EDIT-101. The treatment removes the offending mutation and reinserts a strand of DNA. I have » in the gene, so that the retina can detect light again. The study BRILLIANCE tested participants’ ability to see colored lights, move through a small maze under different lights, and read on a blackboard.
Positive results overall
Of 14 patients included in the study, 11 saw their vision improve, with no serious side effects, the researchers said. However, some patients have reported mild side effects such as quickly absorbed ».
« 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 disorders. “, declared in a press release Eric Pierce, from Harvard Medical Schoolwho led the study.
So far, only one CRISPR therapeutic has been approved for clinical use, Casgevy (cf. CRISPR therapy: after UK and US, green light from Europe). Clinical trials are currently underway to test other CRISPR therapies for AIDS, diabetes, cancer, cardiovascular disease and antibiotic resistance (see HIV: a first patient treated with CRISPR ; “Shrink” a cancer using CRISPR?).
[1] Eric A. Pierce et al., Gene editing for CEP290-associated retinal degenerationThe New England Journal of Medicine, 6 May 2024, DOI: 10.1056/NEJMoa2309915
Source: DW, Fred Schwaller (06.05.2024)
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