It offers new hope for people living in darkness.
An early-stage clinical trial showcased the efficacy of an injectable gene therapy in improving vision among individuals with inherited blindness. Conducted on 14 participants diagnosed with Leber Congenital Amaurosis (LCA), a rare genetic disorder causing vision loss from infancy, the trial administered a single injection of a gene-editing medication into one eye. The results were published in the New England Journal of Medicine and demonstrated significant advancements in treating congenital blindness.
Led by Dr. Tomas Aleman, a pediatric ophthalmologist at the Children’s Hospital of Philadelphia, the study marked a pivotal moment as the first instance of congenitally blind children undergoing gene editing therapy, resulting in notable enhancements in daytime vision. Among the participants, 11 out of 14 experienced measurable improvements in vision, showcasing the promising potential of the treatment.
Key outcomes from the trial revealed that 79% of participants demonstrated improvement in at least one of four measured vision outcomes, while 43% experienced enhancement in two or more outcomes. Additionally, 43% reported an improved quality of life related to vision, and 29% achieved clinically meaningful improvement in visual acuity. These findings underscored the groundbreaking nature of the gene therapy intervention.
The trial, initiated in early 2020 at the Casey Eye Institute at Oregon Health & Science University under the leadership of Dr. Mark Pennesi, a professor of ophthalmology, witnessed tangible improvements in participants’ lives. Patients reported being able to locate personal belongings and discern the functioning of household appliances, highlighting the transformative impact of the treatment on daily activities and quality of life.
While Editas Medicine funded the initial trial, further development of the therapy required collaboration with additional commercial partners. The trial was temporarily paused in November 2022 to facilitate this process and explore opportunities for conducting larger-scale trials in the future. The aim is to expand access to this groundbreaking therapy for individuals with inherited blindness, paving the way for significant advancements in the field of gene therapy and vision restoration.
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