90-month physician and patient-reported outcomes of cipaglucosidase alfa+miglustat in adults with Pompe disease: open-label phase I/II ATB200-02 study

Topic:

Clinical Management

Poster Number: 81 S

Author(s):

Paula R Clemens, MD, University of Pittsburgh, Mark Roberts, MD, Salford Royal NHS Foundation Trust, Barry Byrne, MD, PhD, University of Florida, Ozlem Goker-Alpan, MD, Lysosomal and Rare Disorders Research and Treatment Center, Priya S Kishnani, MD, Duke University Medical Center, Tahseen Mozaffar, MD, University of California, Irvine, 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., Drago Bratkovic, MBBS, PARC Research Clinic, Royal Adelaide Hospital

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. Patient-reported outcomes and Physician Global Impression of Change (PGIC) up to month 90 are reported.

Methods: The study included four patient cohorts: three ambulatory (two enzyme replacement therapy [ERT]-experienced [2 to 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 Rasch-built Pompe-specific Activity (R-PAct), Rotterdam Handicap Scale (RHS), Fatigue Severity Scale (FSS), Subject Global Impression of Change (SGIC) overall physical wellbeing, PGIC and safety.

Results: Twenty-nine patients enrolled (ambulatory: ERT-experienced n=17, ERT-naïve n=6; non-ambulatory: ERT-experienced n=6); 24 completed the study, with five discontinuations overall. R-PAct and RHS total scores to month 60 were relatively stable versus baseline across ambulatory patients. Mean (standard deviation [SD]; range) FSS improved from 49.9 (11.00; 19 to 63) and 42.3 (13.69; 24 to 58) at baseline in ERT-experienced and ERT-naïve ambulatory patients to month 60 (mean [SD; range] change from baseline [CFBL] −4.1 [14.18; −32 to +21] and −0.5 [8.67; −12 to +8]); at month 90, mean (SD; range) CFBL in FSS was −1.5 (16.01; −26 to +21) and +3.7 (10.21; −8 to +11). Non-ambulatory patients improved versus baseline to month 60 in R-PAct (mean [SD; range] CFBL +3.0 [1.41; +2 to +4]) and FSS (−4.3 [7.23; −9 to +4]) but not RHS (−2.9 [5.67; −7 to +4]). Ambulatory patients and their physicians reported mostly improvement or stability for SGIC and PGIC at month 60 (ERT-experienced patients SGIC: 53.8% and 15.4%; PGIC: 30.8% and 46.2%; ERT-naïve patients SGIC: 50.0% and 16.7%; PGIC: 33.3% and 66.7%); no non-ambulatory patient reported a decline at month 60.

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 patients’ wellbeing and PGIC, 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.