Clinical Trial for Gene Therapy for Blindness Earns Award

Gene Therapy for Blindness at CHOP Named in Research List

Published on in CHOP News

April 23, 2013 — A groundbreaking clinical trial of gene therapy for a form of congenital blindness, sponsored by The Children’s Hospital of Philadelphia in collaboration with Penn Medicine, was recognized with the Distinguished Clinical Research Achievement Award from the Clinical Research Forum (CRF) in Washington, DC, on April 18, 2013.

That Award is the second highest in the CRF’s annual Top 10 Clinical Research Achievement Awards. Recognizing studies published in 2012, the CRF focused on a Feb. 2012 article in Science Translational Medicine, co-authored by researchers from CHOP and the Perelman School of Medicine at the University of Pennsylvania. The authors reported on the most recent phase of a clinical trial for Leber’s congenital amaurosis (LCA), a rare retinal disease that progresses to total blindness by adulthood.

The study team reported on further improvements in vision in three adult patients previously treated in one eye who then received the same innovative gene therapy in the second eye.

This LCA research is an ongoing collaboration among Jean Bennett, MD, PhD, F.M. Kirby professor of Ophthalmology at the University of Pennsylvania School of Medicine, Katherine A. High, MD, director of the Center for Cellular and Molecular Therapeutics (CCMT) at The Children’s Hospital of Philadelphia, and Albert M. Maguire, MD, of Penn Medicine and CHOP.

Dr. High, a pioneering gene therapy researcher, directs the CCMT, which is sponsoring the clinical trial in LCA, and manufactured the genetically engineered virus used to carry the therapeutic gene. Dr. Maguire, a retina specialist, injected the corrective gene into the eyes of adult and pediatric study subjects at Children’s Hospital.

This clinical trial of gene therapy achieved dramatic results in children with LCA, as widely reported in October 2009. Building on their previous work, the research team is now conducting the first Phase 3 gene therapy study for genetic disease in the U.S. This is also the world’s first Phase 3 gene therapy study for a non-lethal disorder. If successful, it could lead to the first approved gene therapy product in the United States.

About the Clinical Research Forum

The mission of the Clinical Research Forum, based in Washington, DC, is to provide leadership to the national clinical and translational research enterprise and promote understanding and support for clinical research and its impact on health.


John Ascenzi, Children's Hospital of Philadelphia, 267-426-6055 or