Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic

Eur J Neurol. 2022 Apr;29(4):1181-1186. doi: 10.1111/ene.15222. Epub 2022 Jan 8.


Background and purpose: Data on interruption of enzyme replacement therapy (ERT) are scarce in late onset Pompe disease. Due to the COVID-19 crisis, eight neuromuscular reference centers in France were obligated to stop the treatment for 31 patients.

Methods: We collected the motor and respiratory data from our French registry, before COVID-19 and at treatment restart.

Results: In 2.2 months (mean), patients showed a significant deterioration of 37 m (mean) in the 6-min walk test and a loss of 210 ml (mean) of forced vital capacity, without ad integrum restoration after 3 months of ERT restart.

Conclusions: This national study based on data from the French Pompe Registry shows that the interruption of ERT, even as short as a few months, worsens Pompe patients' motor and respiratory function.

Keywords: alglucosidase alfa; enzyme therapy; stopping; suspension; treatment management.

MeSH terms

  • COVID-19*
  • Enzyme Replacement Therapy / adverse effects
  • Glycogen Storage Disease Type II* / drug therapy
  • Humans
  • Pandemics
  • SARS-CoV-2
  • Treatment Outcome
  • alpha-Glucosidases / therapeutic use


  • alpha-Glucosidases