for people ages 0-17 (full criteria)
at Oakland, California and other locations
study started
completion around



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

Official Title

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


Pompe Disease (Late-onset), Pompe, rhGAA, Glycogen Storage Disease Type II, Miglustat, Cipaglucosidase Alfa, Cipaglucosidase Alfa (ATB200)/Miglustat(AT2221)


You can join if…

Open to people ages 0-17

  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

You CAN'T join if...

  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)


  • UCSF Benioff Children's Hospital accepting new patients
    Oakland California 94609 United States
  • Neuromuscular Research Center withdrawn
    Phoenix Arizona 85028 United States
  • Arkansas Children's Hospital accepting new patients
    Little Rock Arkansas 72202 United States


accepting new patients
Start Date
Completion Date
Amicus Therapeutics
Phase 3 Pompe Disease Research Study
Study Type
Expecting 22 study participants
Last Updated