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Article

Muscle-specific, liver-detargeted adeno-associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa-/- mice.

Journal of inherited metabolic disease - 1 Jan 2024

Sellier P, Vidal P, Bertin B, Gicquel E, Bertil-Froidevaux E, Georger C, van Wittenberghe L, Miranda A, Daniele N, Richard I, Gross D A, Mingozzi F, Collaud F, Ronzitti G

Abstract excerpt

Pompe disease (PD) is a neuromuscular disorder caused by acid α-glucosidase (GAA) deficiency. Reduced GAA activity leads to pathological glycogen accumulation in cardiac and skeletal muscles responsible for severe heart impairment, respiratory defects, and muscle weakness. Enzyme replacement therapy with recombinant human GAA (rhGAA) is the standard-of-care treatment for PD, however, its efficacy is limited due...

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PMID: 37204237
DOI: 10.1002/jimd.12625

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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