AEVR and FFB Announce a June 24 Congressional Briefing on Initital Results of Human Gene Therapy Trials for LCA

June 6, 2008
CONTACT: James F. Jorkasky
Executive Director
[email protected]


(Washington, D.C.) Today, the Alliance for Eye and Vision Research (AEVR) announced that it was joining with the Foundation Fighting Blindness (FFB) to host a Congressional Briefing on the recently released initial results of human gene therapy trials for Leber congenital amaurosis (LCA), a debilitating form of childhood blindness. The briefing entitled Human Gene Therapy for Treating Blinding Eye Diseases: Off and Running will be held Tuesday, June 24, from 12 Noon -1:15 pm in Room B-339 of the Rayburn House Office Building. To RSVP, contact Dina Beaumont at 202-530-4672 or [email protected].

Featured speakers include National Eye Institute (NEI) Director Paul Sieving, M.D., Ph.D. and University of Pennsylvania researchers Jean Bennett, M.D., Ph.D. (F.M. Kirby Professor of Molecular Ophthalmology and the Vice Chair of Research in Ophthalmology) and Al Maguire, M.D., (Associate Professor at Penn’s Sheie Eye Institute). Dr. Bennett and Dr. Maguire serve, respectively, as the Scientific Director and Lead Investigator of the LCA study.

Drs. Bennett and Maguire will report on the promising results of Phase I clinical trials designed to examine the safety of gene transfer to treat LCA, a degenerative disease of the retina, which is the light sensitive neural tissue in the back of the eye. Two papers describing these exciting results appeared in the April 27th online edition of the New England Journal of Medicine. In the study, researchers injected millions of copies of the normal RPE65 gene-which codes for the RPE65 protein, an enzyme that generates the type of vitamin A that the retina requires to respond to light-into the tiny space beneath the retina using an inactivated virus. Initial observations with six study participants indicate that this gene transfer therapy is safe and well- tolerated, with four of the six participants reporting an improvement in vision. The results of these two Phase I trials, in addition to a third Phase I trial expected to be published shortly, will enable researchers to refine the gene transfer technique and design the next set of clinical trials to evaluate the efficacy of the treatment. Most of this work was funded by the NEI within the National Institutes of Health (NIH) and co-funded by FFB, a private funding foundation.

In announcing the briefing, AEVR Executive Director James Jorkasky stated that, “If LCA can be treated effectively with gene transfer, it will point the way toward treatment of other eye diseases caused by single, malfunctioning genes, facilitating treatment of many previously untreatable blinding conditions, such as childhood macular degeneration (Stargardt’s disease), blindness in deaf-blindness (Usher syndrome), and retinitis pigmentosa.”

Alliance for Eye and Vision Research (AEVR) is a 501(c)3 non-profit foundation dedicated to education about the importance of federal funding for eye and vision research. Visit its Web site at

The Foundation Fighting Blindness, Inc., (FFB) is a 501(c)3 non-profit foundation dedicated to research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa (RP), macular degeneration, Usher Syndrome, and the entire spectrum of retinal degenerative diseases.