ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD

An Open-label Study of the Safety, Pharmacokinetics, Efficacy, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Pediatric Subjects Aged 0 to < 18 Years With Late-onset Pompe Disease

This is a Phase 3, open-label, multicenter study to evaluate the safety, PK, efficacy, PD, and immunogenicity of Cipaglucosidase Alfa/Miglustat treatment in enzyme replacement therapy (ERT)-experienced and ERT-naïve pediatric subjects with Pompe disease, aged 0 to < 18 years

Study Overview

• Status: Active, not recruiting
• Conditions: Pompe Disease (Late-onset)
• Intervention / Treatment: Biological: Cipaglucosidase Alfa; Drug: Miglustat

• Study Type: Interventional
• Enrollment (Actual): 21
• Phase: Phase 3

Expanded Access

Available outside the clinical trial. See expanded access record.

Contacts and Locations

Study Locations

• Australia
  • South Australia
    • North Adelaide, South Australia, Australia, 5006
      • Women's and Children's Hospital
• Canada
  • Alberta
    • Calgary, Alberta, Canada, T3B 6A8
      • University Of Calgary
• Germany
  • Hesse
    • Hochheim am Main, Hesse, Germany, 65239
      • SphinCS GmbH Clinical Science for LSD
• Italy
  • Monza, Italy, 20900
    • San Gerardo Hospital
• Japan
  • Gunma, Japan, 371-8511
    • Gunma University Hospital
  • Miyagi, Japan, 980-8574
    • Tohoku University Hospital
  • Tokyo, Japan, 162-8666
    • Tokyo Women's Medical University
  • Izumi-Shi
    • Osaka, Izumi-Shi, Japan, 594-0073
      • Izumi City General Hospital
• United States
  • Florida
    • Gainesville, Florida, United States, 32610
      • University of Florida Clinical Research Center
    • Jacksonville, Florida, United States, 32207
      • Wolfson Children's Hospital
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Woodruff Memorial Research Building
  • Missouri
    • St Louis, Missouri, United States, 63110
      • St. Louis Children's Hospital
  • North Carolina
    • Durham, North Carolina, United States, 27710
      • Duke University Medical Center
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Cincinnati Children's Hospital Medical Center
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15224
      • UPMC Children's Hospital of Pittsburgh
  • Utah
    • Salt Lake City, Utah, United States, 84108
      • University of Utah, Clinical and Translational Sciences Institute
  • Virginia
    • Fairfax, Virginia, United States, 22030
      • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 17 years (Child)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

1. Male or female subjects (ERT-naïve [have never received a dose of rhGAA] or ERT-experienced [have received rhGAA every 2 weeks for at least 6 months immediately before enrollment, and if ERT dosage has been modified, must have been on the modified dosage for at least 3 months before enrollment]) diagnosed with LOPD who are aged 12 to <18 years at screening (Cohort 1 only) or aged 0 months to < 12 years at screening (Cohort 2 only)
2. Subject weighs ≤ 115 kg. (Cohort 1 Only)
3. Subject must have a diagnosis of LOPD based on documentation as defined in study protocol
4. If of reproductive potential and if sexually active, female and male subjects agree to use a highly effective method of contraception throughout the duration of the study and for up to 90 days after their last dose of Cipaglucosidase Alfa/Miglustat
5. Subject has a sitting forced vital capacity (FVC) ≥ 30% of the predicted value for healthy Adolescents at screening (Cohort 1 only)
6. Subject (aged 12 to <18 years; Cohort 1) performs one 6-Minute Walk Test (6MWT) (≥ 75 meters) at screening that is valid, as determined by the clinical evaluator, or subject (aged ≥ 5 to < 12 years; Cohort 2) performs one 6MWT (≥ 40 meters) at screening that is valid, as determined by the clinical evaluator

Exclusion Criteria:

1. Subject has received any investigational/experimental drug, oral anabolic steroid or derivative, biologic, or device within 30 days or 5 half-lives of the therapy or treatment, whichever is longer, before screening
2. Subject has received treatment with prohibited medications within 30 days of screening
3. Subject has received any gene therapy at any time
4. Subject has any intercurrent illness or condition at screening or baseline that may preclude the subject from fulfilling the protocol requirements or suggests to the investigator and/or the medical monitor that the potential subject may have an unacceptable risk by participating in this study
5. Subject has a hypersensitivity to any of the excipients in ATB200, approved rhGAA, or AT2221
6. Female subject is pregnant or breast-feeding at screening
7. Subject requires the use of ventilation support for > 6 hours per day while awake
8. Subject has evidence of moderate to severe hypertrophic cardiomyopathy aligning with classic IOPD
9. In the opinion of the investigator, the parent or legally authorized representative is unlikely or unable to comply with the study requirements
10. Subject has any prior history of illness or condition known to affect motor function, such as, but not limited to, Guillain-Barre syndrome, cerebral palsy, etc
11. Subject who is diagnosed with Pompe disease via newborn screening and is asymptomatic (ie, showing no signs and symptoms of Pompe disease (Cohort 2 Only)

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Cipaglucosidase Alfa (ATB200)/Miglustat(AT2221); Participants received Cipaglucosidase Alfa (ATB200) co-administered with Miglustat (AT2221) capsule	Biological: Cipaglucosidase Alfa; Enzyme Replacement Therapy via intravenous infusion; Other Names: ATB200; Drug: Miglustat; Participants received Cipaglucosidase Alfa (ATB200) co-administered with Miglustat(AT2221); Other Names: AT2221

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Incidence of treatment-emergent adverse events (TEAEs) from baseline	52 weeks

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Assessment of pharmacokinetic parameters	ATB200 and AT2221 concentrations in plasma	52 weeks

Collaborators and Investigators

• Sponsor: Amicus Therapeutics

Study record dates

Study Major Dates

• Study Start (Actual): February 13, 2020
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2026

Study Registration Dates

• First Submitted: April 9, 2019
• First Submitted That Met QC Criteria: April 9, 2019
• First Posted (Actual): April 11, 2019

Study Record Updates

• Last Update Posted (Estimated): October 27, 2025
• Last Update Submitted That Met QC Criteria: October 24, 2025
• Last Verified: October 1, 2025

More Information

Terms related to this study

• Keywords: Pompe; rhGAA
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Glycogen Storage Disease Type II; Hypoglycemic Agents; Physiological Effects of Drugs; Molecular Mechanisms of Pharmacological Action; Anti-Infective Agents; Antiviral Agents; Enzyme Inhibitors; Anti-HIV Agents; Anti-Retroviral Agents; Glycoside Hydrolase Inhibitors; miglustat
• Other Study ID Numbers: ATB200-04

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No