Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: an open-label Phase I/II study (ATB200-02)


Clinical Trials

Poster Number: 138


Barry Byrne, MD, PhD, University of Florida, Benedikt Schoser; on behalf of the COMET Investigator Group, MD, Friedrich-Baur-Institute, Department of Neurology, LMU Klinikum München, München, Germany, Priya S. Kishnani, MD, Duke University Medical Center, Durham, NC, USA, Drago Bratkovic, MD, PARC Research Clinic, Royal Adelaide Hospital, Adelaide, SA, Australia, Paula Clemens, MD, University of Pittsburgh, Ozlem Goker-Alpan, MD, Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), Fairfax, VA, USA, Xue Ming, MD, PhD, Department of Neurology, Rutgers New Jersey Medical School, Newark, NJ, USA, Mark Robert, MD, Salford Royal NHS Foundation Trust, Salford, UK, Matthias Vorgerd, MD, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, Bochum, Germany, Kumaraswamy Sivakumar, MD, Neuromuscular Clinic and Research Center, Phoenix, AZ, USA, Ans T. van der Ploeg, MD, PhD, Erasmus MC, University Medical Center, Rotterdam, The Netherlands, Mitchell Goldman, MD, PhD, Amicus Therapeutics, Inc., Philadelphia, PA, USA, Jacquelyn Wright, MS, Amicus Therapeutics, Inc., Philadelphia, PA, USA, Fred Holdbrook, PhD, Amicus Therapeutics, Inc., Philadelphia, PA, USA, Vipul Jain, MS, MBA, Amicus Therapeutics, Inc., Philadelphia, PA, USA, Sheela Sitaraman Das, PhD, Amicus Therapeutics, Inc., Philadelphia, PA, USA, Yasmine Wasfi, MD, PhD, Amicus Therapeutics, Inc., Philadelphia, PA, USA, Tahseen Mozaffar, MD, University of California Irvine


Cipaglucosidase alfa/miglustat is an investigational, two-component therapy for Pompe disease. We report data up to 48 months for 6-minute walk distance (6MWD) and % predicted sitting forced vital capacity (FVC) for ATB200 02 (NCT02675465).


Three adult ambulatory cohorts – two enzyme replacement therapy (ERT)-experienced (2–6 years [n=11] and ≥7 years [n=6]) and one ERT-naïve (n=6) – received 20 mg/kg intravenous (IV)-infused cipaglucosidase alfa plus 260 mg miglustat orally biweekly in an ongoing study. Changes from baseline (CFBL) in multiple endpoints were assessed at intervals. We report data at 6, 12, 24, 36 and 48 months.


Baseline characteristics represented the Pompe disease population. Durable improvements occurred at 6, 12, 24, 36 and 48 months in 6MWD (m): pooled analyses of ERT-experienced cohorts, mean(±standard deviation [SD]) CFBL: 23.1(±44.75), n=16; 33.5(±49.62), n=16; 25.2(±63.30), n=13; 9.8(±85.98), n=12; 20.7(±101.84), n=9, respectively; ERT-naïve cohort: 36.7(±29.08), n=6; 57.0(±29.96), n=6; 54.4(±36.18), n=6; 43.5(±45.19), n=5; 52.2(±46.59), n=4, respectively. FVC (%) was stable or improved in ERT-experienced cohorts, mean(±SD) CFBL: −0.9(±8.59), n=16; −1.2(±5.95), n=16; 1.0(±7.96), n=13; −0.3(±6.68), n=10; 1.0(±6.42), n=6, respectively, and improved in the ERT-naïve cohort: 4.2(±5.04), n=6; 3.2(±8.42), n=6; 4.7(±5.09), n=6; 6.2(±3.35), n=5; 8.3(±4.50), n=4, respectively. Over 48 months, serum creatine kinase (CK) and urine glucose tetrasaccharide (Hex4) biomarkers improved in ERT-experienced and ERT-naïve cohorts.


In ATB200-02, ERT-experienced cohorts had durable mean improvements (CFBL) in motor function that were sustained up to 48 months of follow-up; respiratory function was stable and maintained over the same period. The ERT-naïve cohort showed durable mean improvements (CFBL) in motor and respiratory function that were sustained up to 48 months of follow-up. Biomarker outcomes were consistent with other efficacy results. The overall safety profile for ambulatory cohorts was similar to approved ERT.

Previously submitted to WORLDSymposium™ 2023. Supported by Amicus Therapeutics, Inc.