90-month pulmonary function outcomes with cipaglucosidase alfa+miglustat in adults with Pompe disease in ATB200-02, an open-label phase I/II study

Topic:

Clinical Management

Poster Number: 82 S

Author(s):

Paula R Clemens, MD, University of Pittsburgh, Priya S Kishnani, MD, Duke University Medical Center, Drago Bratkovic, MBBS, PARC Research Clinic, Royal Adelaide Hospital, Ozlem Goker-Alpan, MD, Lysosomal and Rare Disorders Research and Treatment Center, Tahseen Mozaffar, MD, University of California, Irvine, Mark Roberts, MD, Salford Royal NHS Foundation Trust, Benedikt Schoser, MD, Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Nadine AME van der Beek, MD, Erasmus MC University Medical Center, Farah Amon, MS, Amicus Therapeutics, Inc., Alberto di Ronza, PhD, Amicus Therapeutics, Brian Fox, PhD, Amicus Therapeutics, Inc., Fred Holdbrook, PhD, Amicus Therapeutics, Inc., Vipul Jain, MS, Amicus Therapeutics, Inc., Barry Byrne, MD, PhD, University of Florida

Background: Pompe disease is a progressive disorder characterized by a deficiency of acid α-glucosidase.

Objectives: ATB200-02 (NCT02675465) evaluated cipaglucosidase alfa plus miglustat (cipa+mig) in adults with Pompe disease. Here we report pulmonary function outcomes up to month 90.

Methods: The study included four patient cohorts: three ambulatory (two enzyme replacement therapy [ERT]-experienced [2–6 years and ≥7 years] and one ERT-naïve) cohorts and one non-ambulatory ERT-experienced cohort. All patients received cipa+mig (20 mg/kg intravenous + 260 mg oral) biweekly. Assessments included % predicted sitting forced vital capacity (ppFVC), maximal inspiratory and expiratory pressure (ppMIP and ppMEP), sniff nasal inspiratory pressure (ppSNIP) and safety.

Results: A total of 29 patients enrolled (ERT-experienced ambulatory: n=17; ERT-naïve ambulatory: n=6; ERT-experienced non-ambulatory: n=6) and 24 completed the study, with five discontinuations overall. At baseline, mean (standard deviation [SD]) ppFVC was 57.4 (17.42) % and 57.2 (20.84) % for ERT-experienced and ERT-naïve ambulatory groups, respectively. Mean (SD) change from baseline (CFBL) to month 60 was −0.2 (9.18) % and +5.0 (8.07) %, and to month 90 was −4.2 (5.95) % and +0.7 (5.77) %. Similarly, ERT-naïve ambulatory patients showed improvements in ppMIP, ppMEP and ppSNIP to month 60 (mean [SD] CFBL: +11.3 [17.97] %; +20.1 [16.11] %; +7.5 [16.21] %) and to month 90 (+0.4 [16.68] %; +5.7 [17.02] %; +13.6 [12.08] %). For ERT-experienced ambulatory patients, ppMIP, ppMEP and ppSNIP results varied at month 60 (mean [SD] CFBL: −1.6 [25.17] %; +11.4 [26.93] %; −0.8 [26.17] %) and month 90 (+4.9 [23.78] %; −0.5 [15.06] %; +4.7 [44.95] %) but overall showed stability or improvement up to month 90.

Conclusions: Cipa+mig was generally well tolerated up to month 90. Across Pompe disease populations, long-term treatment with cipa+mig demonstrated durable stability or improvements in multiple pulmonary function measures over 7.5 years, with consistent trends despite the inherent variability of small patient cohorts, especially at later time points. Supported by Amicus Therapeutics, Inc. Submitted to WORLDSymposium 2026, San Diego, CA, USA.