Molecular Approaches for the Treatment of Pompe Disease

Anita Sofia Bellotti, Luca Andreoli, Dario Ronchi, Nereo Bresolin, Giacomo P. Comi, Stefania Corti

Research output: Contribution to journalReview articlepeer-review


Glycogen storage disease type II (GSDII, Pompe disease) is a rare metabolic disorder caused by a deficiency of acid alpha-glucosidase (GAA), an enzyme localized within lysosomes that is solely responsible for glycogen degradation in this compartment. The manifestations of GSDII are heterogeneous but are classified as early or late onset. The natural course of early-onset Pompe disease (EOPD) is severe and rapidly fatal if left untreated. Currently, one therapeutic approach, namely, enzyme replacement therapy, is available, but advances in molecular medicine approaches hold promise for even more effective therapeutic strategies. These approaches, which we review here, comprise splicing modification by antisense oligonucleotides, chaperone therapy, stop codon readthrough therapy, and the use of viral vectors to introduce wild-type genes. Considering the high rate at which innovations are translated from bench to bedside, it is reasonable to expect substantial improvements in the treatment of this illness in the foreseeable future.

Original languageEnglish
Pages (from-to)1259-1280
JournalMolecular Neurobiology
Issue number2
Publication statusPublished - 2020


  • Alpha-glucosidase (GAA)
  • Antisense oligonucleotides
  • Gene therapy
  • Molecular therapy
  • Pompe disease
  • Therapy

ASJC Scopus subject areas

  • Neurology
  • Cellular and Molecular Neuroscience


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