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

e disease-causing mutations in the study subjects.

In April 2008, the current study team published encouraging preliminary results in the New England Journal of Medicine regarding three young adults, the first to receive gene therapy in this current clinical trial. Those subjects showed improvements in their visual function in both objective vision tests and subjective reports by the patients themselves. Patients who could only detect hand movements gained the ability to read lines on an eye chart.

After the first group of three young adults was treated safely, the study team extended gene therapy to five children from the United States, Italy and Belgium, in addition to four other adults. Because animal studies conducted by Bennett and colleagues had shown that visual improvement was age-dependent, the researchers tested the hypothesis that younger human subjects would receive greater benefits from the treatment. "LCA is a progressive disease, so if a treatment was possible, it was plausible to intervene before damage to the retina was severe," said Bennett.

In all, 12 patients received the gene therapy via a surgical procedure performed by Maguire starting in October 2007 at The Children's Hospital of Philadelphia. For each subject, Maguire injected the therapeutic genes into the eye with poorer function. There were three patient cohorts, receiving low, middle and high doses. No serious adverse events occurred in any of the test subjects.

Starting two weeks after the injections, all 12 subjects reported improved vision in dimly lit environments in the injected eye. An objective measurement, which measures how the eye's pupil constricts, showed that all the subjects were able to detect significantly more light after treatment and also showed greater light sensitivity in each patient's treated eye compared to the untreated eye. In addition, before treatment, nine patients had nystagmus, an involuntary movement of the eyes that is
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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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1 shot of gene therapy and children with congenital blindness can now see
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