Article

First-in-human case report: AAV9-hGAA gene therapy for a patient with infantile-onset Pompe disease

2022-12-26

Abstract excerpt

<h4>Background</h4> The classic infantile-onset Pompe disease (IOPD) is characterized by cardiac hypertrophy, respiratory insufficiency, and rapidly progressive muscle weakness due to the acid alpha-glucosidase (GAA) deficiency. Enzyme replacement therapy (ERT) is the current approach for IOPD, but it entails several limitations. Aiming to overcome the limited efficiency of ERT, we developed adeno-associated virus...

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Literature Corpus work: 429b80ca-d72b-5681-ad65-f00bd13dced3
DOI: 10.1101/2022.12.22.22283398

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