First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221

NCT02675465 | Completed Phase 1 Results

• 1 other identifier: ATB200-02
• Study Type: interventional
• Target: 29
• Locations: 6 countries
• Sites: 19

Brief Summary

This is an international, multi-center, open-label study designed to evaluate if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.

Conditions

Pompe Disease

Keywords

Pompe, rhGAA

Outcome Measures

Primary Outcomes (4)

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

  Number of subjects with TEAE, TESAE, and AE leading to discontinuation during the 2 year treatment period and extension (Stage 3 and 4 combined)

  Stage 3 (2 year treatment) and Stage 4 (Extension) combined, (mean = 71 months on treatment)

• Plasma Human Acid α-glucosidase (GAA) Activity Levels as Measured by Maximum Observed Plasma Concentration (Cmax).

  Plasma GAA levels (Cmax) measured in Cohorts 1 and 3 following 1st and 3rd doses of cipaglucosidase alfa + miglustat

  18 Weeks

• Plasma GAA Activity Levels as Measured by Time to Reach the Maximum Observed Plasma Concentration (Tmax).

  Plasma GAA levels (Tmax) measured in Cohorts 1 and 3 following 1st and 3rd doses of cipaglucosidase alfa + miglustat

  18 Weeks

• Plasma GAA Activity Levels as Measured by Area Under the Plasma Drug Concentration-time Curve (AUC).

  Plasma GAA levels (AUC) measured in Cohorts 1 and 3 following 1st and 3rd doses of cipaglucosidase alfa + miglustat

  18 Weeks

Secondary Outcomes (6)

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

  Baseline, Month 60

• Change From Baseline in Pulmonary Function Tests

  Baseline, Month 60

• Change From Baseline in Muscle Strength Tests

  Baseline, Month 60

• Change From Baseline in Fatigue Severity Score (FSS)

  Baseline, Month 60

• Change From Baseline in Overall Physical Wellbeing (Subject's Global Impression of Change [SGIC], Question1)

  Baseline, Month 60

Study Arms (2)

ATB200

EXPERIMENTAL

Sequential single ascending doses of intravenously infused ATB200 for 3 dosing periods

Drug: ATB200

ATB200 + AT2221

EXPERIMENTAL

ATB200 co-administered with AT2221 (Miglustat)

Drug: ATB200; Drug: AT2221

Interventions

ATB200 DRUG

Also known as: Cipaglucosidase alfa

ATB200; ATB200 + AT2221

AT2221 DRUG

Also known as: Miglustat

ATB200 + AT2221

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may not qualify if:

• Received treatment with prohibited medications within 30 days of Baseline Visit
• Subject, if female, was pregnant or breastfeeding at screening
• Subject, whether male or female, planned to conceive a child during the study
• Had a medical or any other extenuating condition or circumstance that may, in opinion of investigator, pose an undue safety risk to the subject or compromise his/her ability to comply with protocol requirements
• Had a history of allergy or sensitivity to alglucosidase alfa, miglustat or other iminosugars (Cohorts 1, 2, and 4)
• Required invasive ventilatory support, or used noninvasive ventilatory support ≥ 6 hours a day while awake (Cohorts 1, 3, and 4)
• Had active systemic autoimmune disease such as lupus, scleroderma, or rheumatoid arthritis; subjects with autoimmune disease must have been discussed with the Amicus Medical Monitor
• Had active bronchial asthma; subjects with bronchial asthma must have been discussed with the Amicus Medical Monitor

Sponsors & Collaborators

• Amicus Therapeutics: lead

Study Sites (19)

Neuromuscular Research Centre

Phoenix, Arizona, 85028, United States

Location

University of California Irvine

Orange, California, 92868, United States

Location

University of Florida

Gainesville, Florida, 32610, United States

Location

Emory University Division of Medical Genetics

Decatur, Georgia, 30033, United States

Location

Infusion Associates

Grand Rapids, Michigan, 49525, United States

Location

Great Falls Clinic, LLP

Great Falls, Montana, 59405, United States

Location

Rutgers New Jersey Medical School

Newark, New Jersey, 08103, United States

Location

Duke University Medical Center

Durham, North Carolina, 27710, United States

Location

Perelman Center for Advanced Medicine

Philadelphia, Pennsylvania, 19104, United States

Location

University of Pittsburgh

Pittsburgh, Pennsylvania, 15213, United States

Location

Abramson Cancer Center Chester County Hospital

West Chester, Pennsylvania, 19380, United States

Location

Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)

Fairfax, Virginia, 22030, United States

Location

Womens & Childrens Hospital, Adelaide

North Adelaide, South Australia, 05006, Australia

Location

University Children's Hospital Department of Neuropediatrics and Inborn Metabolic Disorders, St. Josefs-Hospital

Bochum, 44791, Germany

Location

Friedrich-Baur-Institure, Dep of Neurology - University Munich

Munich, 80336, Germany

Location

Erasmus Medical Center

Rotterdam, Netherlands

Location

School of Medicine, University of Auckland

Auckland, 01051, New Zealand

Location

University Hospital Birmingham NHS Foundation Trust, Queen Elizabeth Medical Center

Birmingham, B15 2TH, United Kingdom

Location

Salford Royal NHS Foundation Trust

Salford, M6 8HD, United Kingdom

Location

Related Publications (3)

• 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

• Roberts ME, Proskorovsky I, Guyot P, Shukla P, Thibault N, Hamed A, Pulikottil-Jacob R, O'Callaghan L, Pollissard L. An Indirect Treatment Comparison of Avalglucosidase Alfa versus Cipaglucosidase Alfa Plus Miglustat in Patients with Late-Onset Pompe Disease. Adv Ther. 2025 Nov;42(11):5578-5599. doi: 10.1007/s12325-025-03301-9. Epub 2025 Sep 8.

  PMID: 40920287 DERIVED

• Byrne BJ, Schoser B, Kishnani PS, Bratkovic D, Clemens PR, Goker-Alpan O, Ming X, Roberts M, Vorgerd M, Sivakumar K, van der Ploeg AT, Goldman M, Wright J, Holdbrook F, Jain V, Benjamin ER, Johnson F, Das SS, Wasfi Y, Mozaffar T. Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02). J Neurol. 2024 Apr;271(4):1787-1801. doi: 10.1007/s00415-023-12096-0. Epub 2023 Dec 6.

  PMID: 38057636 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 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 26, 2016
• First Posted: February 5, 2016
• Study Start: April 1, 2016
• Primary Completion: August 22, 2024
• Study Completion: August 22, 2024
• Last Updated: October 23, 2025
• Results First Posted: October 23, 2025

Record last verified: 2025-10

Locations

AU (1); US (12); NL (1); NZ (1); DE (2); GB (2)