Samuel G. Jacobson, M.D., Ph.D., a professor of ophthalmology with the Scheie Eye Institute at the University of Pennsylvania, is the study's principal investigator.
"This groundbreaking gene therapy trial builds on 15 years of research sponsored by the National Eye Institute of NIH," said Paul A. Sieving, M.D., Ph.D., director of the NEI. "The study has partially restored vision in three young adults, and it demonstrates that gene therapy can be effective in treating human vision disease. Many human diseases are inherited in families and result from mutations in single genes. These genetic conditions are particularly suited to potential treatment by gene therapy. This trial to treat vision loss from the condition of Leber congenital amaurosis is an important demonstration of proof of principle and shows that we are on the right track. We can now invest in further work to refine, and ultimately to expand, genetic treatment approaches."
Results published today focus on the health of the entire retina, not just the tiny portion that received the gene therapy. A detailed examination of the therapy's effectiveness in the treated portion of the eye will appear in an upcoming issue of the Proceedings of the National Academy of Sciences. Two other recent LCA clinical trial reports appeared recently in The New England Journal of Medicine.
"The safety study itself is a milestone, but when we see a benefit to the subject that is a truly a welcome bonus," said Barry J. Byrne, M.D., Ph.D., a professor of molecular genetics and microbiology and director of UF's Powell Gene Therapy Center, which manufactured the viral vectors used in the study. "Improvements in someone's medical condition are ultimately what we are after."
LCA2 affects about 2,000 people in the United States and is one of several incurable forms of blindness collectively kno
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University of Florida