Irreversible consequences of temporarily stopping ERT in Pompe disease

Due to the Covid-19 epidemic, 31 patients with Pompe disease had to stop their treatment with enzyme replacement therapy (ERT), alglucosidase alfa or Myozyme®, in eight neuromuscular reference centres in France.

Analysis of follow-up data from these patients, compiled in the French Pompe disease registry, shows that:

  • an interruption of ERT, even for only two months, worsens respiratory disorders with a decrease of almost 8% (-210 ml of forced vital capacity), and motors with a deterioration of 37 meters in 6-minute test results walking compared to measurements made before stopping treatment;
  • worsening of these parameters is rapid;
  • it is irreversible in the short term, a resumption of therapy being only able to stop the deterioration of the functions affected, without however succeeding in restoring them after three months.

These data agree with those of two studies, Swiss and German. They also conclude that the deterioration that follows the cessation of treatment is significant and rapid, and that the deterioration stabilizes when enzymotherapy is resumed.


Motor and respiratory decline in patients with Late-onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic. Tard C, Salort-Campana E, Michaud M et al. Eur J Neurol. 2021 Dec 20.