Enzyme replacement therapy for the treatment of Pompe disease

Corrado Angelini

Research output: Contribution to journalReview articlepeer-review


Introduction: Glycogenosis type II (GSDII or acid maltase deficiency) is a rare autosomal disorder caused by deficiency of alpha-glucosidase, a lysosomal enzyme that hydrolyzes glycogen to glucose. Areas covered: Since 2006, both infantile (classic Pompe disease) and adult GSDII (late onset pompe disease or LOPD) patients have been treated with enzyme replacement therapy (ERT), and various double blind or observational studies including large cohorts of GSDII patients have recently demonstrated that ERT is effective in modifying the natural course of the disease. Most LOPD cases show an improvement in the first 20 months of treatment of about 50 m in six-minute walk test (6 MWT); vice versa, untreated patients do not show 6MWT improvement over time. Pathophysiologic aspects such as the role of autophagy in natural history and the response to ERT treatment are considered in this review. Expert opinion: The opportunity of ERT treatment improved quality of life for GSDII patients. There has been an important impulse to research various aspects of the disease in relation to both the role of autophagy and the role of immune tolerance, leading to a deeper knowledge of clinical manifestations.

Original languageEnglish
Pages (from-to)311-318
Number of pages8
JournalExpert Opinion on Orphan Drugs
Issue number5
Publication statusPublished - May 4 2018


  • Acid alpha-glucosidase deficiency
  • autophagy
  • enzyme replacement therapy
  • glycogenosis type II
  • Pompe disease

ASJC Scopus subject areas

  • Pharmacology, Toxicology and Pharmaceutics (miscellaneous)
  • Health Policy
  • Pharmacology (medical)


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