Abstract
BackgroundLate-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.MethodsWe 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 strength testing, a 6-minute-walk-test, pulmonary function tests, and adverse events. For statistical analysis, an estimated baseline was calculated based on the individual yearly decline.ResultsThe mean time of ERT interruption was 49.42 days (SD ± 12.54). During ERT interruption, seven patients reported 14 adverse events and two of them were severe. Frequent symptoms were reduced muscle endurance/increased muscle fatigability and shortness of breath/worsening of breathing impairment. After ERT interruption, significant deterioration was found for MIP%pred (p = 0.026) and MRC%pred, as well as a trend to clinical deterioration in FVC%pred and the 6MWT%pred.ConclusionInterruption of ERT was associated with a deterioration in the core clinical outcome measures. Therefore, an interruption of ERT should be kept as short as possible.
Highlights
Pompe disease is a rare autosomal recessive neuromuscular disease that results from mutations in the GAA gene, which encodes the enzyme acid alpha-glucosidase (GAA) [1]
We investigated the associations between changes in outcome measures from B Le to t0 and the following independent parameters: the number of days of Enzyme replacement therapy (ERT) interruption (Δ INT), the number of years on ERT (Δ ERT) and the age at the start of ERT (S ERT)
None was associated with the change of outcome measures from BLe to t0. This analysis was performed to evaluate the effects of a short-term interruption of enzyme replacement therapy in patients with genetically confirmed late-onset Pompe disease
Summary
Pompe disease (glycogen storage disease type II, acid maltase deficiency) is a rare autosomal recessive neuromuscular disease that results from mutations in the GAA gene, which encodes the enzyme acid alpha-glucosidase (GAA) [1]. Enzyme replacement therapy (ERT) has been approved since 2006, demonstrating a slowing of disease progression and stabilization of pulmonary function in clinical trials [3,4,5]. 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. 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. An interruption of ERT should be kept as short as possible
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