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

Céline TardEmmanuelle Salort-CampanaMaud MichaudMarco SpinazziAleksandra Nadaj PaklezaHélène DurrFrançoise BouhourClaire LefeuvreRomain ThomasAzzeddine ArrassiNadjib Taouaghnull nullGuilhem SoléPascal Laforêt

Published in: European journal of neurology (2022)

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.

Keyphrases

late onset
replacement therapy
early onset
end stage renal disease
smoking cessation
chronic kidney disease
ejection fraction
newly diagnosed
prognostic factors
peritoneal dialysis
electronic health record
big data
patient reported outcomes