AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study
Huimin Hu, Rosario Mosca, Elida Gomero, Diantha van de Vlekkert, Yvan Campos, Leigh E. Fremuth, Scott A. Brown, Jason A. Weesner, Ida Annunziata, Alessandra d’Azzo
Abstract
in the liver resulted in the release of the therapeutic precursor protein in circulation and its widespread uptake by cells in visceral organs and the brain. Increased cathepsin A activity resolved lysosomal vacuolation throughout the affected organs and sialyl-oligosacchariduria. No signs of hyperplasia or inflammation were detected in the liver up to a year of age. Clinical chemistry panels, blood cell counts, and T cell immune responses were normal in all treated animals. These results warrant a close consideration of this gene therapy approach for the treatment of galactosialidosis, an orphan disease with no cure in sight.