| Case series/case reports  

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

Data on interruption of enzyme replacement therapy are scarce in late-onset Pompe disease. Due to the COVID-19 crisis, 8 neuromuscular reference centers in France were obligated to stop the treatment for 31 patients.

In this article the authors collected the motor and respiratory data from the French registry, before COVID-19 and at treatment restart. In 2.2 months (mean), patients showed a significant deterioration of 37 meters (mean) in the 6-minute walk test and a loss of 210 mL (mean) of forced vital capacity, without ad integrum restoration after 3 months of ERT restart. The authors concluded that this national study based on data from the French Pompe registry shows that the interruption of enzyme replacement therapy, even as short as only few months, worsens Pompe patients’ motor and respiratory function.
Tard C, Salort-Campana E, Michaud M, Spinazzi M, Nadaj Pakleza A, Durr H, Bouhour F, Lefeuvre C, Thomas R, Arrassi A, Taouagh N; Pompe study group, Solé G, Laforêt P. Motor and respiratory decline in patients with Late-onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic. Eur J Neurol. 2021 Dec 20.

doi: 10.1111/ene.15222