The impact of interrupting enzyme replacement therapy in late-onset Pompe disease.

ABSTRACT:

Background

Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, leading to progressive weakness of locomotor and respiratory muscles. Enzyme replacement therapy (ERT), administered every second week, has been proven to slow down disease progression and stabilize pulmonary function. Due to the COVID-19 pandemic in Germany, ERT was interrupted at our centre for 29 days. As reports on ERT discontinuation in LOPD are rare, our study aimed to analyse the impact of ERT interruption on the change in clinical outcome.

Methods

We performed a prospective cohort study in 12 LOPD patients. Clinical assessments were performed after ERT interruption and after the next three consecutive infusions. We assessed motor function by muscle s

SUBMITTER: Wenninger S 

PROVIDER: S-EPMC7903209 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature