Researchers from Oregon Health & Science University have conducted an experimental CRISPR gene editing treatment for individuals with a rare eye disease that impacts vision. This treatment showed significant improvements in vision-related outcomes, suggesting potential future options for a disease with limited treatments. CRISPR gene editing, discovered in 2013, has been studied for various health conditions and is now being used to treat Leber Congenital Amaurosis (LCA), an inherited retinal disease with no approved FDA treatment.
LCA is a rare genetic eye disorder that typically manifests in the first year of life, affecting the retina and causing low vision or blindness. It is the leading cause of inherited blindness in children worldwide, impacting 2-3 infants per 100,000 births. The Phase 1/2 BRILLIANCE trial, utilizing an experimental CRISPR gene editing treatment called EDIT-101, aimed to edit a mutation in the CEP290 gene, responsible for LCA. Participants in the trial showed improvement in visual acuity, ability to see colored points of light, navigation of a maze, and overall quality of life.
The success of the CRISPR gene editing treatment in the Phase 1/2 BRILLIANCE trial indicates exciting potential for treating inherited retinal degeneration. Participants reported significant improvements in daily tasks, such as locating a phone or monitoring a coffee machine, highlighting the impact of vision improvement on quality of life. Further research is necessary to confirm and refine these results for future treatments.
Experts in the field consider this study a groundbreaking advancement in addressing genetic mutations that impair individuals’ lives. CRISPR gene editing holds promise for correcting genetic disorders like LCA, offering a new approach to treating various degenerative diseases and disorders. The ability to target the root cause of diseases like LCA opens the door to potential treatments for other genetic mutation disorders in ophthalmology and beyond.
Clinicians emphasize the importance of safety in gene editing treatments, as viral vectors used in the process can lead to inflammation and potentially serious side effects. While the small group of participants in the Phase 1/2 BRILLIANCE trial did not experience major side effects, larger studies are needed to fully assess the safety and efficacy of CRISPR gene editing treatments for inherited retinal diseases like LCA. Ongoing research and development in this area hold promise for improving outcomes and quality of life for individuals affected by genetic eye disorders.
