A gene therapy study focused on finding a cure for a rare congenital blinding disease has been recognized as one of the ten most outstanding clinical research projects of the year by the Clinical Research Forum (CRF). The study, led by Jean Bennett, MD, Phd, F.M. Kirby professor of Ophthalmology at the University of Pennsylvania School of Medicine, and carried out in collaboration with Penn Medicine's Albert M. Maguire, MD, and Katherine A. High, MD at The Children's Hospital of Philadelphia (CHOP), has been presented with the Distinguished Clinical Research Achievement Award, the second highest given in the CRF's Annual Top 10 Clinical Research Achievement Awards. CRF award winners are cited as the most compelling examples of scientific innovation that results from the nation's investment in clinical research that can benefit human health and welfare.
The results of the most recent phase of the study for Leber's Congenital Amaurosis (LCA) at CHOP have led to the first Phase 3 gene therapy study in the United States and the first Phase 3 gene therapy study in the world for a non-lethal disorder. The team of researchers hopes that the studies could lead to the first approved gene therapy product in the United States.
"The data from our study has already been used to develop additional clinical trials for other blinding diseases," said Bennett. "There are two things that I think are really going to be important from this work: one, that we'll move forward with this particular disease and get approval for the drug that we've been developing, and two, that this could ultimately lead to approved treatments for other currently untreatable conditions."
Published in 2012, the winning studies are the latest in a long tradition of notable health advances that have occurred through clinical research — such as eliminating polio, reducing the mortality of AIDS, and improving cancer survival rates — that were propelled by combined investment in basic science and clinical research.
"These patients, once rendered blind by LCA, have had their lives transformed and their vision restored by this team's efforts to further gene therapy research," said Joan O'Brien, MD, chair of the department of Ophthalmology at the Scheie Eye Institute at Penn Medicine. "The groundbreaking work sets the stage for the treatment of numerous other blinding conditions, but is also a shining example of what scientists with NIH resources can accomplish for the betterment of humanity."
First U.S. trial uses non-viral CRISPR to correct sickle cell mutation