The cessation of enzyme replacement therapy leads to worsened respiratory and motor function in patients with late-onset Pompe disease

“Interruption of [enzyme replacement therapy], even as short as only few months, worsens [late-onset Pompe disease] patients on motor and respiratory function,” the authors wrote in the study published in the European Journal of Neurology.

Due to the COVID-19 pandemic, 8 centers in France have had to stop enzyme replacement therapy for 31 patients with late-onset Pompe disease. This study aimed to understand the effect of this cessation on patients’ health. 

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The team led by Pascal Laforêt, MD, PhD, from Raymond Poincaré University Hospital in Garches, France collected data about the motor and respiratory function of the patients before the COVID-19 pandemic and at the restart of treatment.

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The results showed that after a mean enzyme replacement therapy cessation of 2.2 months, there was a significant deterioration of 37 meters in patients’ 6-Minute Walk Distance scores and a 120 mL loss in their forced vital capacity measures. These parameters were not restored even after 3 months of enzyme replacement therapy restart.

“In this case, ad integrum recovery is not guaranteed 3 months after the treatment restart,” the authors said.

Late-onset Pompe disease is characterized by muscle weakness first affecting the paraspinal and lower-limb muscles. As the disease progresses, patients develop scoliosis, hyperlordosis, and loss of mobility. Their respiratory muscles are also affected eventually needing respiratory assistance.

Enzyme replacement therapy is currently the only approved disease-modifying therapy for Pompe disease where a recombinant human acid alpha-glucosidase enzyme is provided.


Tard C, Salort-Campana E, Michaud M, et al. Motor and respiratory decline in patients with Late-onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic. Eur J Neurol. Published online December 20, 2021. doi:10.1111/ene.15222