The first-in-human gene therapy trial (ClinicalTrials.gov NCT00976352) for Pompe disease, designed to address respiratory dysfunction, employed direct injection of recombinant adeno-associated virus acid alpha-glucosidase (rAAV1-CMV-GAA) into the diaphragm of a small group of children who required full-time invasive ventilation assistance despite ERT. This evidence concerns the gene GAA and Glycogen storage disease due to acid maltase deficiency.