Gene therapy may improve vision in congenital blindness LCA

Researchers from the University of Pennsylvania School of Medicine and the Center for Cellular and Molecular Therapeutics at the Children’s Hospital of Philadelphia have used gene therapy to safely improve vision in five children and seven adults with a rare form of congenital blindness.

The study used gene therapy to safely improve vision in five children and seven adults with Leber’s congenital amaurosis (LCA).

Leber’s congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life, and affects around 1 in 80,000 of the population. LCA is typically characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. It is an autosomal recessive disorder thought to be caused by abnormal development of photoreceptors.

Albert M. Maguire, M.D., associate professor of Ophthalmology at Penn and a physician at the Children’s Hospital of Philadelphia; Katherine High, M.D., director of the Center for Cellular and Molecular Therapeutics at the Children’s Hospital of Philadelphia; Investigator, Howard Hughes Medical Institute and Jean Bennett, M.D., Ph.D., professor of ophthalmology, at Penn are co-authors of the reversal of blindness in children study published in the Lancet.

“This result is an exciting one for the entire field of gene therapy,” said Katherine A. High, M.D., co-first author of the study and the director of the Center for Cellular and Molecular Therapeutics, the facility that sponsored the clinical trial at The Children’s Hospital of Philadelphia. High, an investigator of the Howard Hughes Medical Institute and a past president of the American Society of Gene Therapy, has been a pioneer in translational and clinical studies of gene therapy for genetic disease. “This study reports dramatic results in restoring vision to patients who previously had no options for treatment,” said High. “These findings may expedite development of gene therapy for more common retinal diseases, such as age-related macular degeneration.”

The gene therapy vector used in the study was manufactured at the Center for Cellular and Molecular Therapeutics at the Children’s Hospital of Philadelphia.

“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.”

“In follow-up studies, we will continue to monitor these patients to determine whether this treatment stops the progression of this retinal degeneration,” said Maguire. “In the future, we hope to investigate whether other retinal disease will be amenable to this gene therapy approach.”

Source: University of Pennsylvania School of Medicine, USA

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