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In a groundbreaking clinical trial, nearly 80% of participants experienced significant vision improvement after undergoing an innovative CRISPR-based gene editing treatment. This pioneering approach, aimed at correcting a rare genetic form of blindness, has been detailed in a recent publication in the New England Journal of Medicine.

The BRILLIANCE trial, led by Dr. Mark Pennesi at Oregon Health & Science University, assessed the safety and efficacy of EDIT-101, a novel gene therapy developed by Editas Medicine. EDIT-101 targets the CEP290 gene mutation responsible for Leber Congenital Amaurosis (LCA) Type 10, a condition without any FDA-approved treatments and affecting roughly 2 to 3 in every 100,000 newborns.

This trial is particularly notable as it marks the first instance of in vivo CRISPR gene editing—editing genes within the human body. The first participant was treated in early 2020 at the OHSU Casey Eye Institute.

Key findings from the study, which followed the progress of 14 participants through February 2023, include:

• 79% (11 participants) showed improvement in at least one of four measured outcomes.
• 43% (6 participants) improved in two or more outcomes.
• 43% reported enhanced vision-related quality of life.
• 29% (4 participants) achieved clinically meaningful improvement in visual acuity.

The trial reported no serious adverse events, and all mild to moderate events have been resolved.

The effectiveness of EDIT-101 was evaluated based on:

• Visual acuity.
• Performance in a full-field test, observing colored points of light.
• Ability to navigate a research maze with varying light conditions.
• Self-reported quality of life improvements.

Despite a pause in enrollment announced by Editas Medicine in November 2022, the research team, including Dr. Eric Pierce from Mass Eye & Ear and Dr. Tomas S. Aleman from the Children’s Hospital of Philadelphia, remains optimistic. They plan to continue development with new partners, focusing on ideal dosing and the treatment’s impact on different age groups.

The BRILLIANCE trial’s success provides a proof of concept for CRISPR gene therapy in treating inherited retinal diseases and opens the door to future innovations in the field. The trial’s positive outcomes offer hope for individuals with inherited retinal disorders, who previously had limited treatment options, and underscores the potential of gene editing in revolutionizing medical treatments. The OHSU Casey Eye Institute, along with four other clinical sites, continues to be at the forefront of this exciting medical advancement.