United States: A promising early-stage gene therapy trial for those with severe forms of inherited blindness demonstrated notable vision improvement among a small participant group, its results say.
The researchers used Leber Congenital Amaurosis (LCA) regardless of age; 14 subjects with genes that caused lack of vision at birth and getting rid of the same vision in babies were enrolled.
How was the study conducted?
In the original study, 11 of the 14 showed an exciting effect that occurred after getting a single injection of a gene-editing medication into one eye. The information is offered in the New England Medicine Journal.
Leber Congenital Amaurosis, the researcher and a pediatric ophthalmologist at the Children’s Hospital of Philadelphia, said, “Our patients are the first congenitally blind children to be treated with gene editing, which significantly improved their daytime vision,” as US News reported.
Additionally, Dr. Eric Pierce, the lead researcher and the director of Mass Eye and Ear Ocular Genomics Institute and Berman-Gund Laboratory for the Study of Retinal Degenerations in Boston, said, “While more research is needed to determine who may benefit most, we consider the early results promising.”
Pierce added, “To hear from several participants how thrilled they were that they could finally see the food on their plates – that is a big deal,” and, “These were individuals who could not read any lines on an eye chart and who had no treatment options, which is the unfortunate reality for most people with inherited retinal disorders.”
More about LCA
Every year, around two to three out of 100,000 babies are affected by LCA, as per the experts. Moreover, those babies with LCA are born with blindness, and those who don’t typically begin losing their sight by around six months of age.
According to the researchers, LCA occurred due to mutations happening in the centrosomal protein 290 (CEP290) gene, as US News reported.
As per the researchers, such mutations lead to malfunctions in the rods and cones of the retina in the eyes, which functions as detecting incoming visual signals and thereby processing them into electrical signals received by the brain, as US News reported.
More about CEP290 gene mutations
According to scientists, CEP290 gene mutations are the main cause of inherited blindness that occurs during the first decade of one’s life.
In order to reach some genetic solution, researchers have considered using CRISPR-Cas9 technology, which is said to be a gene editing toolkit that mainly acts as a pair of gene-level scissors. Such a tool has the ability to remove the mutated gene portion, thereby leaving it functional post-edit.
The resultant trial in clinics has proved to be the first time a patient received a CRISPR-based gene medicine directly implemented in their bodies, according to the researchers.