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Clinical Trial
. 2025 Jun 26;392(24):2438-2446.
doi: 10.1056/NEJMoa2407766.

AAV9-Mediated Gene Therapy for Infantile-Onset Pompe's Disease

Xiuwei Ma  1   2   3   4 , Lu Zhuang  1   2   3   4 , Wenhao Ma  5 , Jun Li  1   2   3   4 , Yingying Mao  5 , Jianhua Wang  6 , Xiaodong Wang  5 , Juan Xu  7 , Shuangqing Yu  5 , Ruijie Gu  1   2   3   4 , Yongxia Wang  1   2   3   4 , Zhongqiu Li  1   2   3   4 , Xinyang Jiang  1   2   3   4 , Sheng Zhang  1   2   3   4 , Fang He  1   2   3   4 , Xiao Yang  1   2   3   4 , Lina Zhu  1   2   3   4 , Shan Zhang  1   2   3   4 , Yanping Zhang  1   2   3   4 , Ting Li  1   2   3   4 , Qiuping Li  1   2   3   4 , Zhijie Wu  5 , Cengceng Zhang  5 , Yiying Zhang  8 , Xiaoyan Dong  5 , Hui Xiong  9 , Xiaobing Wu  5 , Zhichun Feng  1   2   3   4
Affiliations
Clinical Trial

AAV9-Mediated Gene Therapy for Infantile-Onset Pompe's Disease

Xiuwei Ma et al. N Engl J Med. .

Abstract

Four patients with infantile-onset Pompe's disease received a single intravenous injection of an adeno-associated virus serotype 9 vector carrying codon-optimized complementary DNA encoding human acid α-glucosidase (GAA) (dose, 1.2 × 1014 vector genomes per kilogram of body weight). One patient was withdrawn from the study and subsequently died. The other patients had improvement in cardiac outcomes and motor function over a 52-week observation period. Anti-GAA antibodies were not detected in any of the patients during the observation period. Respiratory tract infections were the most common adverse events. (Funded by the National Natural Science Foundation of China and National High Level Hospital Clinical Research Funding; Chinese Clinical Trial Registry number, ChiCTR2200063229.).

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