Researchers from Oregon Health & Science University have utilized an experimental CRISPR-based gene editing treatment for individuals with a rare eye disease that affects vision. The treatment resulted in significant improvements in visual acuity and other vision-related outcomes, showcasing potential for future treatments for this rare disease. Leber Congenital Amaurosis (LCA) is the specific inherited retinal disease being targeted, with no current FDA-approved treatment available. LCA is a rare genetic eye disorder that typically presents in the first year of life and can lead to low vision or blindness.
LCA is caused by a mutation in specific genes passed down through parents, with one common mutation occurring in the CEP290 gene. This gene plays a role in creating a protein necessary for vision, and patients with this mutation can experience profound vision loss. The Phase 1/2 BRILLIANCE clinical trial tested the experimental CRISPR-based gene editing treatment called EDIT-101, designed to edit the mutation in the CEP290 gene. This treatment has shown promising results for improving vision in participants with LCA, with 79% of participants showing improvement in at least one measured outcome.
The success of the treatment was measured through various outcomes such as visual acuity, ability to see colored points of light, navigation through a maze with varying amounts of light, and improved quality of life. The clinical trial demonstrated the exciting potential of CRISPR gene editing in treating inherited retinal degeneration, with participants reporting significant improvements in their vision. Further research is required to confirm these results and optimize future treatments for inherited retinal diseases.
Experts in the field, such as Dr. David I. Geffen, have hailed this study as a landmark investigation in treating genetic mutations that impact individuals’ lives. CRISPR gene editing holds promise in correcting disorders like LCA, marking a significant breakthrough in medical science. Treating disorders like LCA may pave the way for treating other genetic mutation disorders, both in the eye and systemically, offering hope for improved quality of life for many patients.
Dr. Benjamin Bert, a board-certified ophthalmologist, also recognized the importance of this study in providing a treatment for a disease with limited options. Targeting the root cause of the disease through gene editing is a preferred approach, and the study demonstrates the feasibility of such treatments. Safety considerations, such as potential inflammation from the viral vector used in the treatment, need to be further investigated in larger studies to ensure the safety and efficacy of CRISPR-based gene editing for inherited retinal diseases like LCA. Overall, this research represents a significant advancement in the potential treatment of rare genetic eye disorders.
