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

PMID: 34927321

Céline Tard, Emmanuelle Salort-Campana, Maud Michaud

Highlights: 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.

Abstract:

Background and purpose: In late-onset Pompe disease, data on the discontinuation of enzyme replacement therapy (ERT) is lacking. Eight neuromuscular reference centers in France were forced to stop treating 31 patients due to the COVID-19 crisis.

Methods: Before COVID-19 and at treatment restart, we obtained motor and respiratory data from our French registry.

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: The interruption of ERT, even for a few months, affects the motor and respiratory function of Pompe patients, according to this national study based on data from the French Pompe Registry.

Keywords: alglucosidase alfa, enzyme therapy, stopping, suspension, treatment management