Encouraging Early Report for Three Patients in LCA1-GUCY2D Gene Therapy Clinical Trial

A clinical research team led by Samuel Jacobson, MD, PhD, at the University of Pennsylvania, observed vision improvements for the first three patients with Leber congenital amaurosis 1 (LCA1) treated with an emerging GUCY2D gene therapy in a Phase 1/2 clinical trial. The treatment also demonstrated a favorable safety profile. The gene therapy is being developed by Atsena Therapeutics, a clinical-stage gene therapy company. Early results for the trial were published online in the journal iScience.

The first three patients dosed in the trial were adults with advanced vision loss but with some remaining retinal structure. All received the lowest dose of the treatment. Patients 1 and 2 had improved rod function as measured by full-field sensitivity, a test appropriate for those with advanced loss because it doesn’t require the patient to fixate. Rod photoreceptors provide peripheral vision and vision in dim settings. The visual acuity of Patient 3 improved from 20/400 to 20/200, indicating improved cone function.

The therapy was created in the laboratory of Atsena Founder and Chief Scientific Officer Shannon Boye, Ph.D., and Founder and Chief Technology Officer Sanford Boye, M.Sc., at the University of Florida.

Atsena is being funded by an investment from the Foundation’s RD Fund, a venture philanthropy fund for emerging treatments in, or moving toward, early-stage clinical trials.

“We are encouraged by these early results for Atsena’s LCA1-GUCY2D gene therapy and look forward to additional results for patients with better vision who will receive higher doses,” says Benjamin Yerxa, PhD, chief executive officer at the Foundation. “Gene therapy is a good potential approach for many GUCY2D patients because they have remaining retinal structure despite advanced vision loss.”

LCA is the most common cause of blindness in children, impacting two to three per 100,000. LCA1 is caused by mutations in the GUCY2D gene and results in early and severe vision impairment or blindness. LCA1-GUCY2D is one of the most common forms of LCA, affecting roughly 20 percent of patients who live with this inherited retinal disease.