LA JOLLA, Calif. — Gene therapy with a recombinant AAV2-hRPE65 vector may be safe and effective in patients with Leber congenital amaurosis due to RPE65 mutations, according to a study presented here.
“LCA is a congenital retinal dystrophy [that] is caused by mutations in at least 13 different genes and about 10% of people in the U.S. have because they lack the protein RPE65,” Tim Stout, MD, PhD, MBA, said at the American Ophthalmological Society meeting.
The nonrandomized, open-label study included 12 patients with LCA due to RPE65 gene mutations who were treated with a single, unilateral subretinal injection of rAAV2-CB-hRPE65.
“Visual acuity was transiently depressed in all eyes but returned to baseline or better in 10 of 12 patients,” Stout said.
The four youngest patients demonstrated visual improvement, with increases of 6 to 12.5 ETDRS letters.
There were no postoperative complications aside from mild, expected, surgery-related adverse events.
“There did appear to be improved function with quality-of-life aspects,” Stout said.
Disclosure: Stout is a consultant for AGTC Inc., Oxford Biomedica, Stem Cells Inc.., Peregrine and Pfizer. Stout receives patents/royalties from Oxford Biomedica and grant support from AGTC Inc., Oxford Biomedica and Pfizer.