2026 American Academy of Neurology Abstract Website

Alberto di Ronza¹, Drago Bratkovic², Barry J. Byrne³, Paula R. Clemens⁴, Ozlem Goker-Alpan⁵, Priya S. Kishnani⁶, Tahseen Mozaffar⁷, Mark Roberts⁸, Nadine AME Van Der Beek⁹, Farah Amon¹, Brian Fox¹, Fred Holdbrook¹, Vipul Jain¹, Benedikt Schoser¹⁰
¹Amicus Therapeutics, Inc., Princeton, NJ, USA, ²PARC Research Clinic, Royal Adelaide Hospital, Adelaide, SA, Australia, ³University of Florida, Gainesville, FL, USA, ⁴Department of Neurology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA, ⁵ysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA, USA, ⁶Duke University Medical Center, Durham, NC, USA, ⁷Department of Neurology, University of California, Irvine, CA, USA, ⁸Salford Royal NHS Foundation Trust, Salford, UK, ⁹Erasmus MC University Medical Center, Rotterdam, Netherlands, ¹⁰Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany

Objective:

ATB200-02 (NCT02675465) evaluated cipa+mig in adults with Pompe disease. We report muscle function and biomarker outcomes up to month 90.

Background:

Pompe disease is a progressive disease that can lead to irreversible muscle damage.

Design/Methods:

Four patient cohorts were included: three ambulatory (two enzyme replacement therapy [ERT] experienced [2–6 and ≥7 years] and one ERT naïve) and one non-ambulatory, ERT-experienced cohort. All patients received cipa+mig (20mg/kg intravenous + 260mg oral) biweekly. Assessments included 6-minute walk distance (6MWD); Gait, Stairs, Gowers’ maneuver, Chair (GSGC); creatine kinase (CK); hexose tetrasaccharide (Hex4); safety.

Results:

Twenty-nine patients enrolled (ERT experienced, ambulatory: n=17; ERT naïve, ambulatory: n=6; ERT experienced, non-ambulatory: n=6); 24 completed the study, with five discontinuations. In ambulatory patients, mean (standard deviation [SD]) baseline % predicted 6MWD was 60.2 (16.20)% and 67.8 (12.61)% for ERT-experienced and ERT-naïve groups, respectively. Mean (SD) change from baseline (CFBL) to month 60 was +4.8 (9.08)% and −1.5 (19.71)%, and +2.7 (9.20)% and +0.9 (15.00)% to month 90. Mean (SD) GSGC score improved from 14.3 (5.23) and 12.8 (3.55) at baseline in ERT-experienced and ERT-naïve ambulatory patients to months 60 (mean [SD] CFBL −1.2 [5.41] and −0.8 [2.32]) and 90 (−1.2 [4.49] and −0.5 [2.12]). ERT-experienced and ERT-naïve ambulatory patients had improvements in mean (SD) percent CFBL in CK (−46.5 [12.13]% and −53.8 [10.03]%) and Hex4 (−20.3 [47.28]% and −2.3 [133.95]%) at month 90. Non-ambulatory, ERT-experienced patients had improvements in CK and Hex4 at month 60 (mean [SD] percent CFBL −12.3 [43.91]% and −2.9 [25.32]%); 90-month data not available.

Conclusions:

Cipa+mig was generally well tolerated up to month 90. Across patient populations, long-term treatment with cipa+mig demonstrated durable stability or improvements in muscle function and biomarker outcomes 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.