Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

SG Jacobson, AV Cideciyan… - Archives of …, 2012 - jamanetwork.com
Objective To determine the safety and efficacy of subretinal gene therapy in the RPE65 form
of Leber congenital amaurosis using recombinant adeno-associated virus 2 (rAAV2)
carrying the RPE65 gene. Design Open-label, dose-escalation phase I study of 15 patients
(range, 11-30 years of age) evaluated after subretinal injection of the rAAV2-RPE65 vector
into the worse-functioning eye. Five cohorts represented 4 dose levels and 2 different
injection strategies. Main Outcome Measures Primary outcomes were systemic and ocular …