May 02 2013

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CHOP, Penn Gene Therapy Trial for Blindness Honored


The corrective gene is injected into the eyes of adult and pediatric study subjects.

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 recently recognized with the Distinguished Clinical Research Achievement Award from the Clinical Research Forum, an organization of clinical research centers, industry, and volunteer groups.

Based in Washington, D.C., the Clinical Research Forum (CRF) provides “leadership to the national clinical and translational research enterprise,” and promotes “understanding and support for clinical research and its impact on health.”

That recent award given to CHOP and Penn 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, 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 Leber’s congenital amaurosis research is an ongoing collaboration among Jean Bennett, MD, PhD, F.M. Kirby professor of Ophthalmology at the University of Pennsylvania School of Medicine, CHOP’S Katherine A. High, MD, director of the Center for Cellular and Molecular Therapeutics (CCMT), 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 Leber’s congenital amaurosis, and which 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.

As widely reported in October 2009, this clinical trial of gene therapy achieved dramatic results in children with LCA. 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.

Permanent link to this article: http://blog.research.chop.edu/chop-penn-gene-therapy-trial-for-blindness-honored/

1 comment

  1. Lisa Buzenas


    Mutations in my four-year-old son Noa Hottin’s CEP-290 gene have rendered him blind, except to light, since birth. I have spoken with the head of clinical trials at UPENN on several occasions during the past four years to determine when genetic therapy will be available to treat my son’s LCA. Do you have an estimate when treatment will be FDA-approved/available to LCA patients (one year? four years?) We currently live in Belgium, where my son visits Dr. Bart Leroy at the University of Ghent, but I will move back to Washington, DC as soon as I know my son is eligible for genetic therapy at UPENN/CHOP. Dr. Leroy has mentioned that Noa’s direct vision is very treatable, and may be able to recover his vision up to 20/200.

    Thank you for your work, and your time,

    Lisa Buzenas

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