NEI Investment in RPE65-LCA Research Continues to Produce Promising Results


NEI support leading to gene therapy clinical trials for people with Leber congenital amaurosis (LCA) consisted of significant efforts by investigators in the intramural laboratories at the NEI as well as many extramural investigators at universities funded by NEI grants. People with the LCA condition are born with severe visual impairment or develop vision loss early in childhood.

The NEI has actively supported LCA research for over 17 years, since the RPE65 gene was identified. Areas of study included basic science studies of the gene and vector development, observational clinical research of various forms of LCA, development and testing of animal models (rodents and dogs), genetics, pathophysiology of LCA, and gene therapy in animal models.

The October 24, 2009, online version of Lancet, reports findings from a Phase I clinical trial designed to assess the effect of gene therapy on retinal and visual function in people with LCA. Key findings include:

Gene therapy was well tolerated and had no adverse effects.
Patients showed sustained improvements in vision.
The greatest improvement was noted in children.
These results contribute to a growing body of evidence about the safety of gene therapy in treating people with LCA. The study is registered with, number NCT00516477.

For background information on gene therapy and LCA, go to: