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Evaluating a new treatment for late-onset Pompe disease in children

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

PHASE3 · Amicus Therapeutics · NCT03911505

This study is testing a new treatment for children with late-onset Pompe disease to see if it helps them feel better and what side effects it might have.

Quick facts

PhasePHASE3
Study typeInterventional
Enrollment22 (estimated)
Ages0 Years to 17 Years
SexAll
SponsorAmicus Therapeutics (industry)
Locations23 sites (Phoenix, Arizona and 22 other locations)
Trial IDNCT03911505 on ClinicalTrials.gov

What this trial studies

This Phase 3, open-label, multicenter study assesses the safety, pharmacokinetics, efficacy, pharmacodynamics, and immunogenicity of Cipaglucosidase Alfa and Miglustat in pediatric patients with late-onset Pompe disease. The study includes both enzyme replacement therapy (ERT)-experienced and ERT-naïve participants aged from birth to under 18 years. Participants will be monitored for their response to treatment and any potential side effects over the course of the study.

Who should consider this trial

Good fit: Ideal candidates are children aged 0 to under 18 years diagnosed with late-onset Pompe disease, either new to treatment or currently receiving enzyme replacement therapy.

Not a fit: Patients who are not diagnosed with late-onset Pompe disease or those who do not meet the age and health criteria may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could significantly improve the management of late-onset Pompe disease in pediatric patients.

How similar studies have performed: Previous studies on enzyme replacement therapies for Pompe disease have shown promising results, indicating potential for success with this approach.

Eligibility criteria

Show full inclusion / exclusion criteria 
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)

Where this trial is running

Phoenix, Arizona and 22 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.

View on ClinicalTrials.gov →

Conditions: Pompe Disease, Pompe, rhGAA

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.