CRISPR-Cas9 gene editing has been found to be safe and largely effective in addressing a form of inherited blindness in a group of patients that, for the first time, included children. In a multisite clinical trial called BRILLIANCE that included researchers from the Perelman School of Medicine and Children’s Hospital of Philadelphia (CHOP), 14 people—including two children under 17 years old—with leber congenital amaurosis (LCA), a form of blindness resulting from mutations in the CEO290 gene, received a single, surgical injection of a gene editing agent. Of those 14, nearly half reported measurable improvements in sight, including the two children according to the study, published in the New England Journal of Medicine (NEJM).
“Our patients are the first congenitally blind children to be treated with gene-editing, which significantly improved their ability to see things like daylight. Our hope is that the study will pave the road for treatments of younger children with similar conditions and further improvements in vision,” says Tomas S. Aleman, the Irene Heinz-Given and John LaPorte Research Professor in Ophthalmology at Penn Medicine with the Scheie Eye Institute and a pediatric ophthalmologist at CHOP who served as a site principal investigator and study co-author. “This trial represents a landmark in the treatment of genetic diseases, in specific, genetic blindness, by offering an important alternative treatment, when traditional forms of gene therapy, such as gene augmentation, are not an option.”
Read more at Penn Medicine News.
