On April 28, 2009, researchers from the Institute of Ophthalmology at University College London and Moorfields in the UK published the results from the world's first clinical trial to test the use of gene therapy to treat inherited blindness. The research was particularly focused on Leber's congenital amaurosis - a group of inherited rod-cone dystrophies in the retina caused in part by mutations of one of several genes including RPE65. In the study, three young adult patients were administered subretinal injections of recombinant adeno-associated virus vector 2/2 expressing RPE65 protein complementary DNA under the control of a human RPE65 promoter. The results were published in the New England Journal of Medicine, and the authors suggest that the subretinal administration of recombinant adeno-associated virus vector is not associated with immediate adverse events in patients with severe retinal dystrophy and that adeno-associated virus-mediated RPE65 gene therapy can lead to modest improvements in visual function, even in patients with advanced degeneration. The authors further concluded that these findings provide support for the development of further clinical studies in children with RPE65 deficiency as these children are more likely to benefit than adults.

For more information, please see: http://content.nejm.org/cgi/content/full/NEJMoa0802268