PHILADELPHIA — 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.”
The Clinical Research Forum is an organization comprised of the nation’s most prestigious and acclaimed academic medical centers and healthcare systems whose goal is to sustain and expand a cadre of talented, well-trained clinical investigators at all stage of career development, and support nurturing environments and comprehensive research capabilities within academic institutions. Its mission 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.
Penn Medicine is one of the world’s leading academic medical centers, dedicated to the related missions of medical education, biomedical research, excellence in patient care, and community service. The organization consists of the University of Pennsylvania Health System and Penn’s Raymond and Ruth Perelman School of Medicine, founded in 1765 as the nation’s first medical school.
The Perelman School of Medicine is consistently among the nation's top recipients of funding from the National Institutes of Health, with $550 million awarded in the 2022 fiscal year. Home to a proud history of “firsts” in medicine, Penn Medicine teams have pioneered discoveries and innovations that have shaped modern medicine, including recent breakthroughs such as CAR T cell therapy for cancer and the mRNA technology used in COVID-19 vaccines.
The University of Pennsylvania Health System’s patient care facilities stretch from the Susquehanna River in Pennsylvania to the New Jersey shore. These include the Hospital of the University of Pennsylvania, Penn Presbyterian Medical Center, Chester County Hospital, Lancaster General Health, Penn Medicine Princeton Health, and Pennsylvania Hospital—the nation’s first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.
Penn Medicine is an $11.1 billion enterprise powered by more than 49,000 talented faculty and staff.