Long-term efficacy of enzyme-replacement therapy in 102 adult Pompe patients: a 5-year nationwide prospective cohort study


Enzyme-replacement therapy (ERT) has been proven to be effective for adults with Pompe disease. However, as there is little data on its long-term efficacy, we aimed to determine the effect of enzyme treatment with alglucosidase alfa after 5 years, and sought to identify predictors for a favorable response. In this nationwide, prospective, cohort study, we assessed muscle strength (manual muscle testing (MRC grading), hand-held dynamometry (HHD)), muscle function (six-minute walk test, quick motor function test), daily life activities (Rasch-build Pompe-specific Activity scale (R-PAct)), and pulmonary function (forced vital capacity (FVC) in upright and supine positions, maximum inspiratory (MIP), and expiratory (MEP) pressures) at 3–6 months intervals before and after start of ERT.


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