[HTML][HTML] Safety and efficacy of gene transfer for Leber's congenital amaurosis

AM Maguire, F Simonelli, EA Pierce… - … England Journal of …, 2008 - Mass Medical Soc
AM Maguire, F Simonelli, EA Pierce, EN Pugh Jr, F Mingozzi, J Bennicelli, S Banfi
New England Journal of Medicine, 2008Mass Medical Soc
Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset
during childhood. One form of the disease, LCA2, is caused by mutations in the retinal
pigment epithelium–specific 65-kDa protein gene (RPE65). We investigated the safety of
subretinal delivery of a recombinant adeno-associated virus (AAV) carrying RPE65
complementary DNA (cDNA)(ClinicalTrials. gov number, NCT00516477). Three patients
with LCA2 had an acceptable local and systemic adverse-event profile after delivery of …
Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. One form of the disease, LCA2, is caused by mutations in the retinal pigment epithelium–specific 65-kDa protein gene (RPE65). We investigated the safety of subretinal delivery of a recombinant adeno-associated virus (AAV) carrying RPE65 complementary DNA (cDNA) (ClinicalTrials.gov number, NCT00516477). Three patients with LCA2 had an acceptable local and systemic adverse-event profile after delivery of AAV2.hRPE65v2. Each patient had a modest improvement in measures of retinal function on subjective tests of visual acuity. In one patient, an asymptomatic macular hole developed, and although the occurrence was considered to be an adverse event, the patient had some return of retinal function. Although the follow-up was very short and normal vision was not achieved, this study provides the basis for further gene therapy studies in patients with LCA.
The New England Journal Of Medicine