A recent study published in the New England Journal of Medicine revealed that about 79% of participants in a clinical trial experienced significant improvement after receiving an experimental CRISPR-based gene editing treatment designed to address a rare form of blindness. The trial, known as BRILLIANCE, evaluated the safety and effectiveness of EDIT-101, a therapy developed by Editas Medicine that uses CRISPR technology to target a mutation in the CEP290 gene that causes Leber Congenital Amaurosis, or LCA, Type 10. This condition affects about 2 to 3 out of 100,000 newborns and currently has no FDA-approved treatments available.
Results from the trial showed that 11 out of 14 participants, including both adults and children, experienced improvements in at least one of the measured outcomes. About 43% of participants saw improvements in two or more outcomes, while 29% showed clinically meaningful enhancements in visual acuity. Additionally, 43% reported an improved quality of life related to their vision. Importantly, there were no serious adverse events related to the treatment, and most adverse events were mild or moderate and have since been resolved. The study represents a significant milestone in the use of in vivo gene editing within the human body to treat genetic conditions.
While the trial initially showed promising results, Editas Medicine announced in November 2022 that it would pause enrollment in the trial and seek another partner to continue the development of the experimental therapy. Researchers, led by ophthalmologist Mark Pennesi from the Oregon Health & Science University, are exploring collaboration with other commercial partners to conduct additional trials to further investigate the treatment’s potential. Future studies may focus on optimal dosing, age-specific responses, and refined endpoints to assess the therapy’s impact on daily activities.
According to Dr. Eric Pierce from Mass Eye & Ear, ongoing research in CRISPR gene therapy for inherited vision loss shows promise and underscores the need for continued investigation through research and clinical trials. Several participants in the trial expressed excitement over improvements in their vision, including being able to see food on their plates and navigate daily tasks more effectively. The success of the trial in treating congenitally blind children marks a significant advancement in the treatment of genetic blindness and offers hope for future treatments for younger patients with similar conditions.
The positive outcomes of the BRILLIANCE trial provide proof of concept and valuable insights for the development of innovative medicines for inherited retinal diseases. Editas Medicine’s Chief Medical Officer, Dr. Baisong Mei, emphasized the importance of the trial’s results in demonstrating the safety and efficacy of delivering a CRISPR-based gene editing therapeutic to the retina and achieving clinically meaningful outcomes. The collaborative efforts of clinical sites like the OHSU Casey Eye Institute and others across the country have played a crucial role in recruiting participants and advancing research in this groundbreaking area of gene therapy for vision loss.
