Sufferers of a rare inherited form of blindness have had partial sight restored by an international research team using gene therapy.
An international team of researchers has restored partial sight to three patients suffering a rare inherited form of blindness using gene therapy. Photo: Eye chart. Credit: Public Domain/Wikipedia
Researchers from the University of Pennsylvania , The Children’s Hospital of Philadelphia, the Second University of Naples and the Telethon Institute of Genetics and Medicine (both in Italy), and several other American institutions have combined to restore sight in three young adults who were blind due to the rare condition known as Leber congenital amaurosis (LCA) -- a severe form of retinitis pigmentosa.
The three patients, who had severely abnormal vision prior to the treatment, were able to read several lines on an eye chart under certain conditions and one was able to navigate better following the injections. Though the three have only partial vision restored, the therapy has been described as an important "breakthrough" in its field.
"This breakthrough is the greatest advancement in the 37-year history of the Foundation Fighting Blindness and the entire history of retinal degenerative disease research," says Gordon Gund, Co-Founder and Chairman of the Foundation Fighting Blindness , the chief source of non-government funding for the treatment. "We have achieved a critical milestone in curing a form of childhood blindness," he said.
"Our clinical trial results represent an important first step in developing therapies and treatments that will reverse blindness in people with a variety of retinal degenerative diseases," says Jean Bennett, M.D., Ph.D., the study's lead researcher at The Children's Hospital of Philadelphia.
The researchers injected a vector, a genetically engineered adeno-associated virus, to replace a undamaged version of the RPE65 gene, that is mutated in one form of LCA condition. Three patients, ages 19, 26 and 26, received the gene therapy via a surgical procedure between October 2007 and January 2008 at The Children’s Hospital of Philadelphia, where the gene vector was manufactured at the hospital’s Centre for Cellular and Molecular Therapeutics (CCMT), said a University of Pennyslvania statement.
The success of the research augurs well for the treatment in general said Katherine A. High, M.D., a study leader and an Investigator of the Howard Hughes Medical Institute.
“This result is important for the entire field of gene therapy,” she said. “Gene transfer has been in clinical trials for over 15 years now, and although it has an excellent safety record, examples of therapeutic effect are still relatively few. The results in this study provide objective evidence of improvement in the ability to perceive light, and thus lay the groundwork for future studies in this and other retinal disorders,” said High.
FionaApr 29th, 2008 - 13:25:31
I have retinitis pigmentosa and I am blind with it. I hate this dark life and so much want to see my little boys smile. Please support the researchers, as there are so many brave blind people but also so many blind people who are afraid. Take us out from the darkness and into the light?
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