A recent clinical trial shows that the CRISPR gene editing technique may be effective in improving vision in patients with Leber Congenital Amaurosis (LCA), a rare hereditary blindness condition. ACL affects around one in every 40,000 newborns and is caused by a genetic mutation that results in severe vision loss, leading to complete blindness in approximately a third of cases. To date, there are no FDA-approved treatments for this condition.
The BRILLIANCE study examined the use of CRISPR to modify the CEP290 gene, directly implicated in ACL, in a group of 14 participants. This study represents the first time that CRISPR has been applied directly to the human body, with the treatment being administered to photosensitive cells located behind the retina.
Published in the New England Journal of Medicine, data from the study’s initial three-year period (2020-2023) shows promising results. Patients were evaluated on several aspects, including the ability to recognize objects and letters, the perception of colored lights in visual field tests, the ability to navigate a maze under different lighting conditions, and changes in quality of life reported by the patients themselves. .
Of the 14 participants, 11 (79%) showed improvement in at least one of the evaluated parameters, with six (43%) showing improvements in two or more aspects. Additionally, six reported an improvement in quality of life, which they attributed to the visual improvements achieved, while four (29%) showed significant progress on vision tests.
There were no reports of serious adverse effects, and mild to moderate side effects resolved without additional intervention. These results underscore the efficacy and safety of CRISPR, not only for treating ACL but also other forms of blindness and genetic disorders.
This advancement in the use of CRISPR to restore vision in patients with ACL is a remarkable development in genetic medicine, offering new hope for individuals with inherited diseases and expanding the possibilities for therapeutic applications of this technology.
