Pompe disease is a rare disorder characterized by progressive loss of muscle and respiratory function. Data are limited in non-ambulatory patients or those switching from high-dose, high-frequency (HDHF; 40 mg/kg every week) alglucosidase alfa (alg) to cipaglucosidase alfa plus miglustat (cipa+mig). We analyzed outcomes in two non-ambulatory patients in study ATB200-02 who received alg for >13 years (including >2 years' HDHF) before switching to cipa+mig (20 mg/kg + 260 mg every 2 weeks). In both, upper limb quantitative muscle test scores markedly increased over 54 months. Subject and Physician Global Impression of Change scores were improved or unchanged at 6 months and maintained throughout. Fatigue severity improved versus baseline after 12 months. Rotterdam Handicap Scale scores fluctuated over time. Biomarker levels (urine hexose tetrasaccharide and serum creatine kinase) improved versus baseline at all visits. The two patients experienced 11 non-serious adverse events (no infusion-associated reactions). Data provide information for clinicians considering a transition from HDHF alg to cipa+mig.
Keywords: Glycogen storage disease type II; High-frequency dosing; Lysosomal storage diseases; n-Butyldeoxynojirimycin.
Copyright © 2025. Published by Elsevier B.V.