Journal of Inherited Metabolic Disease
John J. Mitchell, Jose E. Abdenur, Foekje de Boer, Monica Boyer, Margo Sheck Breilyn, María‐Luz Couce, Diva D. De Leon, Terry G. Derks, Areeg El‐Gharbawy, Andrea B. Haijer‐Schreuder, Karen Loechner, Nicola Longo, Allan M. Lund, Miguel Angel Martinez Olmos, Shawn E. McCandless, Bibiana Mello de Oliveira, Malaya Mount, Nicole Muschol, Kristina Pytlak, Kadakkal Radhakrishnan, Rebecca Riba‐Wolman, David F. Rodriguez‐Buritica, Alessandro La Rosa, Alessandro Rossi, Heather Saavedra, René Santer, Brian Shayota, G. Peter A. Smit, Carolina F. Moura De Souza, Melanie M. van der Klauw, David A. Weinstein, Joseph I. Wolfsdorf, Anne Blake, Andrew A. Grimm, Deepali Mitragotri, Syeda Rahman, Diane M. Turner‐Bowker, Richard Collis
ABSTRACT Glycogen storage disease type Ia (GSDIa) is a rare, life‐threatening inherited carbohydrate metabolism disorder caused by biallelic pathogenic G6PC gene variants resulting in deficiency of glucose‐6‐phosphatase. DTX401 is an investigational AAV8 vector containing the human G6PC gene. DTX401‐CL301 is a pivotal, phase 3, double‐blind, randomized, placebo‐controlled trial of DTX401 in patients ≥ 8 years with GSDIa. The primary endpoint was percent change from Baseline to Week 48 in daily cornstarch intake for …