Enzyme replacement therapy in late-onset Pompe disease: A systematic literature review

Antonio Toscano, Benedikt Schoser

Research output: Contribution to journalArticlepeer-review


Glycogen storage disease type 2/Pompe disease is a progressive muscle disorder with a wide range of phenotypic presentations, caused by an inherited deficiency of acid alpha-glucosidase. Since 2004 only a limited number of patients have been treated with recombinant human alpha-glucosidase from rabbit milk whereas since 2006 enzyme replacement therapy (ERT) with alglucosidase alfa has been licensed for the treatment of Pompe disease. This systematic review evaluates the clinical efficacy and safety of alglucosidase alfa treatment of juvenile and adult patients with late-onset Pompe disease (LOPD). Studies of alglucosidase alfa treatment of LOPD patients - published up to January 2012 - were identified by electronic searching of the EMBASE and MEDLINE databases, and manual searching of the reference lists. Data on ERT outcomes were extracted from selected papers and analyzed descriptively. No statistical analysis was performed owing to data heterogeneity. Twenty-one studies containing clinical data from 368 LOPD patients were analyzed. Overall, at least two-thirds of patients were stabilized or had improved creatine kinase levels and muscular and/or respiratory function following treatment with alglucosidase alfa. ERT was well tolerated; most adverse events were mild or moderate infusion-related reactions. In conclusion, alglucosidase alfa treatment is effective and well tolerated and attenuates progression of LOPD in most patients. Further research is required to investigate factors such as age at diagnosis, phenotypic presentation, and genotypic characteristics, identification of which may enable better clinical and therapeutic management of LOPD patients.

Original languageEnglish
Pages (from-to)951-959
Number of pages9
JournalJournal of Neurology
Issue number4
Publication statusPublished - Apr 2013


  • Alglucosidase alfa
  • Enzyme replacement therapy
  • Glycogen storage disease type 2
  • Late-onset Pompe disease (LOPD)
  • Systematic review

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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