Alglucosidase alfa demonstrates effectiveness and safety in Chinese patients with late-onset Pompe disease: A multi-center prospective study

OBJECTIVE: Pompe disease is a rare, progressively debilitating lysosomal disorder. Enzyme replacement therapy (ERT) is an established treatment targeting the underlying enzyme deficiency. Alglucosidase alfa has shown benefits in survival, ambulation, and respiratory function and was approved in China for both infantile-onset (IOPD)and late-onset Pompe disease (LOPD) in 2015.To assess the effectiveness and safety of 52-week Alglucosidase alfa treatment among Chinese patients with LOPD in a multicenter, single arm, open-label, prospective clinical study. METHODS: Forty-one eligible LOPD patients received Alglucosidase alfa infusions at 20 mg/kg every 2 weeks for 52 weeks. Primary endpoints included the six-minute walk test (6MWT), percentage of predicted forced vital capacity (FVC), and safety profile. Secondary endpoints encompassed manual muscle test (MMT), maximal inspiratory and expiratory pressure (MIP and MEP), Quick motor function test (QMFT) scores, and health-related quality of life (SF-12). RESULTS: After 52 weeks, the mean 6MWT distance significantly improved by 43.6 m (P = 0.0017). Although the mean percentage of predicted FVC improved by 2.4%, the difference was not statistically significant (P = 0.1424). MIP and MEP percentages improved, reaching maximal improvement at 38 weeks. Both MMT and QMFT scores demonstrated significant improvements, with increases of 2.5 points (P < 0.0001) and 5.6 points (P < 0.0001), respectively. PCS significantly improved by 3.8 points (P = 0.0039), while MCS improvement was not statistically significant. A total of 32 participants (78.0%) experienced 137 treatment-emergent adverse events (TEAEs). Most of these TEAEs were mild to moderate in severity and resolved without sequelae. CONCLUSIONS: Alglucosidase alfa demonstrated a positive benefit-risk profile in Chinese LOPD patients, confirming its safety and effectiveness.