A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With Late-Onset Pompe Disease (LOPD)

NCT04138277 | Completed Phase 3 Results FDA Drug

• 1 other identifier: ATB200-07
• Study Type: interventional
• Target: 119
• Locations: 22 countries
• Sites: 59

Brief Summary

This is a multicenter, international open-label extension study of ATB200/AT2221 in adult subjects with late-onset Pompe disease (LOPD) who completed Study ATB200-03.

Conditions

Pompe Disease (Late-onset)

Keywords

Pompe; rhGAA

Outcome Measures

Primary Outcomes (1)

• Incidence of Treatment-emergent Adverse Events (TEAEs), Treatment-emergent Serious Adverse Events (TESAEs), and TEAEs Leading to Discontinuation of Study Drug

  Number of subjects with TEAE, TESAE, and TEAE leading to discontinuation during this long-term extension study

  Entire extension study (mean = 40.5 months on treatment)

Secondary Outcomes (12)

• Change From Baseline in 6-Minute Walk Distance (6MWD)

  baseline, Week 208

• Change From Baseline in Sitting % Predicted Forced Vital Capacity (FVC)

  baseline, Week 208

• Change From Baseline in Manual Muscle Testing (MMT) Lower Extremity Score

  baseline, Week 208

• Change From Baseline in the Total Score for Patient-reported Outcomes Measurement Information System (PROMIS®) - Physical Function

  baseline, Week 208

• Change From Baseline in the Total Score for PROMIS® - Fatigue

  baseline, Week 208

Study Arms (1)

ATB200/AT2221

EXPERIMENTAL

Participants received ATB200 (cipaglucosidase alfa) co-administered with AT2221 capsule (miglustat)

Drug: AT2221; Biological: ATB200

Interventions

AT2221 DRUG

Participants received ATB200 co-administered with AT2221 (miglustat)

Also known as: miglustat

ATB200/AT2221

ATB200 BIOLOGICAL

Enzyme Replacement Therapy via intravenous infusion

Also known as: cipaglucosidase alfa

ATB200/AT2221

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• \. Subject must have completed Study ATB200-03.
• Note: Subjects who were forced to withdraw from Study ATB200-03 for a logistical reason not related to the efficacy or safety of cipaglucosidase alfa/miglustat (eg, hospitalization for a car accident, COVID-19 pandemic, or emergency surgery) that resulted in several consecutive missed doses may have been eligible to participate in this study upon approval by the Amicus medical monitor.

You may not qualify if:

• Subject plans to receive gene therapy or participate in another interventional study for Pompe disease.
• Subject, if female, is pregnant or breastfeeding.
• Subject, whether male or female, is planning to conceive a child during the study.
• Subject had a hypersensitivity to any of the excipients in cipaglucosidase alfa or miglustat, or had a medical condition or any other extenuating circumstance that may have, in the opinion of the investigator or medical monitor, posed an undue safety risk to the subject or may have compromised his/her ability to comply with or adversely impacted protocol requirements.

Sponsors & Collaborators

• Amicus Therapeutics: lead

Study Sites (60)

University of Arkansas for Medical Sciences

Little Rock, Arkansas, 72205, United States

Location

University of California, Irvine

Irvine, California, 92868, United States

Location

University of Florida Clinical Research Center

Gainesville, Florida, 32610, United States

Location

Emory Clinic

Atlanta, Georgia, 30322, United States

Location

IU Health Neuroscience Center

Indianapolis, Indiana, 46202, United States

Location

Washington University School of Medicine

St Louis, Missouri, 63110, United States

Location

Billings Clinic

Billings, Montana, 59101, United States

Location

Hackensack University Medical Center

Hackensack, New Jersey, 07061, United States

Location

Northwell Health

Great Neck, New York, 11021, United States

Location

NYU School of Medicine

New York, New York, 10017, United States

Location

Duke University Medical Center

Durham, North Carolina, 27710, United States

Location

University of Cincinnati Gardner Neuroscience Institute

Cincinnati, Ohio, 45219, United States

Location

Cincinnati Children's Hospital

Cincinnati, Ohio, 45229, United States

Location

The Ohio State University Wexner Medical Center

Columbus, Ohio, 43210, United States

Location

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

UPMC Montefiore Clinical and Translational Research Center

Pittsburgh, Pennsylvania, 15213, United States

Location

University of Utah

Salt Lake City, Utah, 84108, United States

Location

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Fairfax, Virginia, 22030, United States

Location

Hospital Universitario Austral

Buenos Aires, B1629ODT, Argentina

Location

Westmead Hospital

Westmead, New South Wales, Australia

Location

Royal Brisbane & Women's Hospital

Brisbane, Queensland, 4029, Australia

Location

Royal Adelaide Hospital

Adelaide, South Australia, 5000, Australia

Location

Monash Medical Centre

Clayton, Victoria, 3168, Australia

Location

Medizinische Universität Innsbruck

Innsbruck, A-6020, Austria

Location

UZ Leuven

Leuven, 3000, Belgium

Location

University Clinical Centre of the Republic of Srpska

Banja Luka, The Republic of Srpska, 78000, Bosnia and Herzegovina

Location

Alberta Children's Hospital, Heritage Medical Research Clinic

Calgary, Alberta, T3B 6A8, Canada

Location

McMaster University Medical Centre

Hamilton, Ontario, L8N 3Z5, Canada

Location

Aarhus Universitetshospital

Aarhus, Denmark

Location

Hôpital Pierre Wertheimer

Bron, 69577, France

Location

Hôpital Raymond Poincaré

Garches, 92380, France

Location

Hôpital Salengro

Lille, 59037, France

Location

Hôpital de la Timone

Marseille, 13385, France

Location

Hôpital Pasteur 2

Nice, 06001, France

Location

Universitätsklinikum Bonn

Bonn, 53127, Germany

Location

Friedrich-Baur Institut

München, 80336, Germany

Location

Universitätsklinikum Münster

Münster, 48149, Germany

Location

Eginition Hospital

Athens, 11528, Greece

Location

Semmelweis University

Budapest, 1085, Hungary

Location

University of Pécs

Pécs, 7623, Hungary

Location

University of Szeged

Szeged, 6725, Hungary

Location

UOC di Neurologia e Malattie Neuromuscolari

Messina, 98124, Italy

Location

Universitaria Federico II

Naples, 80131, Italy

Location

Fukuoka University Hospital

Fukuoka, 814-0180, Japan

Location

Kagoshima University Hospital

Kagashima, 890-8520, Japan

Location

Izumi City General Hospital

Osaka, 594 0073, Japan

Location

Hokkaido University Hospital

Sapporo, 060 8648, Japan

Location

The Jikei University Hospital

Tokyo, 105-8471, Japan

Location

Erasmus MC

Rotterdam, 3015 GD, Netherlands

Location

University of Auckland

Auckland, 1142, New Zealand

Location

Centrum Medyczne Medyk

Rzeszów, Podkarpackie Voivodeship, 35-326, Poland

Location

University Medical Centre Ljubljana

Ljubljana, 1000, Slovenia

Location

Pusan National University

Yangsan, Gyeongsangnam-do, 50612, South Korea

Location

Hospital de la Santa Creu I Sant Pau

Barcelona, Spain

Location

Sahlgrenska University Hospital

Gothenburg, 41345, Sweden

Location

National Taiwan University Hospital

Taipei, 100, Taiwan

Location

Queen Elizabeth Hospital Birmingham

Birmingham, B15 2TH, United Kingdom

Location

Cambridge University Hospitals NHS Foundation Trust

Cambridge, CB2 0QQ, United Kingdom

Location

Royal Free Hospital NHS Foundation Trust

London, NW3 2QG, United Kingdom

Location

Salford Royal NHS Foundation Trust

Salford, M6 8HD, United Kingdom

Location

Related Publications (3)

• Hopkin RJ, Byrne BJ, Dimachkie MM, Kishnani PS, Mozaffar T, Roberts M, Schoser B, van der Beek NAME, van der Ploeg AT, Wenninger S, Brudvig J, Fox B, Holdbrook F, Jain V, Johnson F, Zhang J, Parenti G. Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease. Ther Adv Rare Dis. 2026 Feb 26;7:26330040261425686. doi: 10.1177/26330040261425686. eCollection 2026 Jan-Dec.

  PMID: 41769220 DERIVED

• Andersen H, Diaz-Manera J, Goker-Alpan O, Mozaffar T, Sitaraman Das S, Fox B, Amon F, O'Brien-Prince K, Goldman M, Holdbrook F, Jain V, Byrne BJ. Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials. Ther Adv Rare Dis. 2026 Jan 31;7:26330040261416943. doi: 10.1177/26330040261416943. eCollection 2026 Jan-Dec.

  PMID: 41631150 DERIVED

• Schoser B, Kishnani PS, Bratkovic D, Byrne BJ, Claeys KG, Diaz-Manera J, Laforet P, Roberts M, Toscano A, van der Ploeg AT, Castelli J, Goldman M, Holdbrook F, Sitaraman Das S, Wasfi Y, Mozaffar T; ATB200-07 Study Group. 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07). J Neurol. 2024 May;271(5):2810-2823. doi: 10.1007/s00415-024-12236-0. Epub 2024 Feb 28.

  PMID: 38418563 DERIVED

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

miglustat

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Results Point of Contact

• Title: MedInfo
• Organization: Amicus Therapeutics, Inc.

MedInfoUSA@amicusrx.com

001 609-662-2000

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 18, 2019
• First Posted: October 24, 2019
• Study Start: December 18, 2019
• Primary Completion: December 31, 2024
• Study Completion: December 31, 2024
• Last Updated: March 5, 2026
• Results First Posted: January 12, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

GR (1); HU (3); SE (1); DK (1); BO (1); CA (2); NL (1); NZ (1); KR (1); GB (4); TW (1); BE (1); AR (1); FR (5); AU (4); DE (3); US (18); SL (1); ES (1); IT (2); JP (5); PL (1)