Dolan Sondhi, Stephen M Kaminsky, Neil R Hackett, Odelya E Pagovich, Jonathan B Rosenberg, Bishnu P De, Alvin Chen, Benjamin Van de Graaf, Jason G Mezey, Grace W Mammen, Denesy Mancenido, Fang Xu, Barry Kosofsky, Kaleb Yohay, Stefan Worgall, Robert J Kaner, Mark Souwedaine, Bruce M Greenwald, Michael Kaplitt, Jonathan P Dyke, Douglas J Ballon, Linda A Heier, Szilard Kiss, Ronald G Crystal
Late infantile Batten disease (CLN2 disease) is an autosomal recessive, neurodegenerative lysosomal storage disease caused by mutations in the CLN2 gene encoding tripeptidyl peptidase 1 (TPP1). We tested intraparenchymal delivery of AAVrh.10hCLN2, a nonhuman serotype rh.10 adeno-associated virus vector encoding human CLN2 , in a nonrandomized trial consisting of two arms assessed over 18 months: AAVrh.10hCLN2-treated cohort of 8 children with mild to moderate disease and an untreated, Weill Cornell natural history cohort consisting of 12 children...
December 2, 2020: Science Translational Medicine