CRISPR trial participants see vision improve

A recent study published in the New England Journal of Medicine reveals that approximately 79% of participants in a clinical trial experienced significant improvements after undergoing experimental CRISPR-based gene editing aimed at treating a rare type of blindness. The trial, known as the BRILLIANCE trial, was led by Dr. Mark Pennesi, an ophthalmologist and lead scientist at Oregon Health & Science University (OHSU).

Dr. Pennesi expressed excitement over the potential of CRISPR gene editing to treat inherited retinal degeneration. He shared that participants reported meaningful improvements in their vision, such as being able to find misplaced items and recognizing small lights, which greatly enhanced their quality of life despite seeming trivial to those with normal vision.

The BRILLIANCE trial evaluated the safety and efficacy of EDIT-101, a gene editing treatment developed by Editas Medicine. EDIT-101 uses CRISPR technology to correct a mutation in the CEP290 gene, which is essential for vision. This mutation leads to a rare condition known as Leber Congenital Amaurosis (LCA) Type 10, which currently has no FDA-approved treatment and affects 2 to 3 out of 100,000 newborns.

The OHSU Casey Eye Institute treated the first participant in early 2020, marking the first use of in vivo CRISPR gene editing in humans. The study tracked the responses of 14 participants—12 adults and 2 children—who received the treatment in one eye. The trial demonstrated four key outcomes to gauge the treatment’s effectiveness.

However, in November 2022, Editas Medicine announced a pause in the trial’s enrollment and stated that they were seeking a new partner to continue developing the therapy. Dr. Pennesi and his team are working with other commercial partners to conduct further trials in collaboration with Editas, aiming to refine dosing, assess the treatment's impact on different age groups, and measure improvements in daily activities.

Dr. Eric Pierce, an ophthalmologist at Mass Eye and Ear and a co-author of the study, stressed the importance of continued research into CRISPR gene therapy for inherited vision loss. He noted that while more research is necessary to understand who might benefit the most, the initial results are promising. Participants reported significant improvements in vision, such as being able to see food on their plates, a notable change for individuals who previously had no treatment options.

Dr. Tomas S. Aleman, a pediatric ophthalmologist at the Children's Hospital of Philadelphia and the University of Pennsylvania's Scheie Eye Institute, highlighted that the trial was groundbreaking as it was the first to treat congenitally blind children with gene editing. He expressed hope that the study would lead to treatments for younger children with similar conditions and further improvements in vision.

Baisong Mei, Chief Medical Officer of Editas Medicine, commented on the significance of the BRILLIANCE trial results, stating that the trial provided proof of concept for CRISPR-based gene editing treatments for inherited retinal diseases. The trial demonstrated the ability to safely deliver the treatment to the retina and achieve clinically meaningful outcomes.

The OHSU Casey Eye Institute was one of five clinical sites that recruited participants for the trial, alongside Bascom Palmer Eye Institute in Miami, Florida; Mass Eye and Ear in Boston, Massachusetts; Scheie Eye Institute at the University of Pennsylvania and Children's Hospital of Philadelphia; and Kellogg Eye Center in Ann Arbor, Michigan.