Gene therapy for progressive blindness with positive results

The first gene therapy for choroideremia, a hereditary retinal disease that leads to progressive blindness, has produced surprising and very positive results in the patients involved: several patients showed real improvements in their vision in dim light, and two of these patients showed an ability to read more lines on the eye chart. The results of this study, published in the Lancet journal, are based on research by Miguel Seabra and his research team, who have been studying the genetic basis of choroideremia for twenty years.

Surgeons at Oxford Eye Hospital (UK) injected the choroideremia gene directly into the light-sensitive cells of patients, using a harmless virus to introduce the gene into the cells. Miguel Seabra's team identified the gene and studied its function in mice that develop the disease. It was also his team that developed the virus used in the clinical trial.

Although this is the first of several phases that need to be completed before the treatment becomes available to patients, the positive results suggest that the approach could be applied to other causes of blindness that are more common than choroideremia, such as retinitis pigmentosa and age-related macular degeneration.

The clinical trial is funded by the Wellcome Trust and the UK Department of Health, with support from the Biomedical Research Center and the Fight for Sight association, whose contribution Miguel Seabra highlights as a notable example of the active involvement of patients in supporting scientific research.