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1 shot of gene therapy and children with congenital blindness can now see
Date:10/24/2009

"These findings may expedite development of gene therapy for more common retinal diseases, such as age-related macular degeneration."

Although the patients did not attain normal eyesight, half of them (six of 12) improved enough that they may no longer be classified as legally blind. "The clinical benefits have persisted for nearly two years since the first subjects were treated with injections of therapeutic genes into their retinas," said senior author Jean Bennett, M.D., Ph.D., F.M. Kirby professor of Ophthalmology at the University of Pennsylvania School of Medicine. For Bennett, the results build on nearly 20 years of gene studies on hereditary blindness, starting with pioneering work in mice and dogs. "These remarkable results," she added, "have laid a foundation for applying gene therapy not only to other forms of childhood-onset retinal disease, but also to more common retinal degenerations."

The study team reported their findings today in an online article in The Lancet.

"Children who were treated with gene therapy are now able to walk and play just like any normally sighted child," said co-first author Albert M. Maguire, M.D., an associate professor of Ophthalmology at Penn and a physician at Children's Hospital. "They can also carry out classroom activities without visual aids."

Maguire and Bennett have been researching inherited retinal degenerations for nearly 20 years. Leber's congenital amaurosis, the target of this current study, is a group of inherited blinding diseases that damages light receptors in the retina. It usually begins stealing sight in early childhood and causes total blindness during a patient's twenties or thirties. Currently, there is no treatment for LCA.

Walking along a dimly lit, simulated street route, the children were able to negotiate barriers they bumped into before the surgery. Another child, who since birth, could only see light and shadows, stared into his father's face
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Contact: Karen Kreeger
karen.kreeger@uphs.upenn.edu
215-459-0544
University of Pennsylvania School of Medicine
Source:Eurekalert  

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