Abstract-Text (inkl. Referenzen)

Introduction Cipaglucosidase alfa/miglustat is an investigational, 2-component therapy for Pompe disease. We report data up to 48months (mo) for 6‑minute walk distance (6MWD) and % predicted sitting forced vital capacity (FVC) for ATB200‑02 (NCT02675465). Methods In this ongoing study, 3 ambulatory cohorts, 2 ERT-E (2–6yrs [n=11] and ≥7yrs [n=6]) and 1 ERT-N (n=6), received 20mg/kg IV-infused cipaglucosidase alfa + 260mg miglustat orally biweekly. We report changes from baseline (CFBL) for multiple endpoints at 12, 24, 36 and 48mo. Results Durable improvements occurred at 12, 24, 36 and 48mo in 6MWD(m): pooled ERT-E cohorts, mean(±SD) CFBL: 33.5(±49.6), n=16; 25.2(±63.3), n=13; 9.8(±86.0), n=12; 20.7(±101.8), n=9, respectively; ERT-N: 57.0(±30.0), n=6; 54.4(±36.2), n=6; 43.5(±45.2), n=5; 52.2(±46.6), n=4, respectively. FVC (%) was stable or improved in ERT-E cohorts, mean(±SD) CFBL: −1.2(±6.0), n=16; 1.0(±8.0), n=13; −0.3(±6.7), n=10; 1.0(±6.4), n=6, respectively, and improved in ERT-N: 3.2(±8.4), n=6; 4.7(±5.1), n=6; 6.2(±3.4), n=5; 8.3(±4.5), n=4, respectively. Over 48mo, CK and Hex4 biomarkers improved in all cohorts. Overall safety profile was similar to approved ERT. Summary Durable mean improvements (CFBL) in motor function were sustained in all cohorts. Respiratory function was stable for ERT-E and improved for ERT-N over 48mo. Biomarker outcomes were consistent with other efficacy results. Sponsor: Amicus Therapeutics, Inc. Previously presented at WORLDSymposium 2023.