Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study

J Inherit Metab Dis. 2012 Mar;35(2):301-10. doi: 10.1007/s10545-011-9393-6. Epub 2011 Oct 7.

Abstract

We examined the efficacy of 2-year enzyme replacement therapy (ERT) using recombinant human α-glucosidase (GAA; Myozyme®) in five long-term ventilator-dependent adults and aged patients with advanced, late-onset glycogen storage disease type II (GSDII, also known as Pompe disease). Although all patients had advanced respiratory failure and were ventilator-dependent for more than 6 years, four showed obvious improvements in muscle strength, pulmonary function, and activities of daily living after ERT. Improvement in each parameter was more prominent in the first year than in the second year. Values in the second year were still significantly better than those at study entry and indicate stabilization in the clinical status of all patients. These results suggest that ERT continues to be effective in the second year of treatment even in patients suffering from advanced late-onset GSDII disease with severe respiratory failure.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Activities of Daily Living
  • Adult
  • Aged
  • Enzyme Replacement Therapy / methods*
  • Female
  • Follow-Up Studies
  • Glycogen Storage Disease Type II / drug therapy*
  • Glycogen Storage Disease Type II / enzymology*
  • Humans
  • Long-Term Care / methods
  • Male
  • Middle Aged
  • Muscle Strength / drug effects
  • Recombinant Proteins / therapeutic use*
  • Respiratory Insufficiency / drug therapy
  • Respiratory Insufficiency / enzymology
  • Treatment Outcome
  • alpha-Glucosidases / therapeutic use*

Substances

  • Recombinant Proteins
  • GAA protein, human
  • alpha-Glucosidases