ClinicalTrials.gov record NCT04808505

A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
PhasePhase 3A later-stage study, usually with more participants, designed to give stronger evidence about how well a treatment works and how safe it is. It often compares the treatment with standard care or a placebo, and results may support an application for approval.
AgeUp to 17 years old
SexAll
LocationGermany, Italy, Netherlands, Taiwan, United Kingdom, United States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This Phase 3 open-label study evaluates cipaglucosidase alfa given with oral miglustat in children with infantile-onset Pompe disease (IOPD). It includes two non-randomized groups: ERT-experienced children aged 6 months to <18 years and ERT‑naïve infants 0 to <6 months. The study will collect safety, efficacy, pharmacokinetic/pharmacodynamic, and immune response data, with a primary assessment period of 104 weeks.

What it is studying. Whether cipaglucosidase alfa plus miglustat is safe and how the drug behaves in the body, its effects, and the immune response it provokes in pediatric IOPD.

What the researchers hope to learn. To evaluate the safety, efficacy, pharmacokinetics, pharmacodynamics, and immunogenicity of cipaglucosidase alfa given with miglustat in pediatric subjects with infantile-onset Pompe disease; and to measure infusion-associated reactions over a 104-week primary treatment period.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

This is a Phase 3, open-label, multicenter study to evaluate the safety, efficacy, PK, PD, and immunogenicity of cipaglucosidase alfa/miglustat treatment in ERT-experienced and ERT-naïve pediatric subjects with IOPD.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Drug
  • Miglustat
Biological
  • Cipaglucosidase alfa

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Cohort 1:
  • Male or female subjects who are aged 6 months to < 18 years on Day 1
  • Subject must have documentation of IOPD genotype
  • Subject must have had hypertrophic cardiomyopathy at the time of diagnosis
  • Subject must have received ERT for at least 6 months immediately before enrollment. For subjects whose ERT dosage has been modified, the subject must have been on the modified dosage and regimen for at least 3 months before enrollment
  • Subjects aged ≥ 12 to < 18 years must perform one valid 6-minute walk test (6MWT) (≥ 75 meters) at screening; Subjects aged ≥ 5 to < 12 years must perform one valid 6MWT (≥ 40 meters) at screening; Subjects aged 18 months to < 5 years must be ambulatory and assessed to be likely to be able to perform 6MWT (≥ 40 meters) when they turn 5 years old
  • Subjects must have experienced a clinical decline on their current rhGAA dose and frequency
  • Cohort 2:
  • Male or female subjects who are aged 0 to <6 months at Day 1
  • Subject must have documentation of IOPD genotype
  • Subject must have had hypertrophic cardiomyopathy at the time of diagnosis
  • Subject is ERT-naïve
  • Long-term Extension (Cohort 1 or Cohort 2):
  • Subject must have, in the opinion of the investigator, benefited from therapy with cipaglucosidase alfa/miglustat during the 104-week primary treatment period with no significant safety concerns.

Exclusion criteria

  • Cohort 1 and Cohort 2, unless specified
  • Subject requires invasive ventilation (eg, tracheostomy)
  • Subject is CRIM negative and has not received prophylactic immunomodulation (Cohort 1); Subject is CRIM negative and will not be receiving prophylactic immunomodulation (Cohort 2)
  • Subject has a history of life-threatening IARs/hypersensitivity (eg, anaphylaxis and severe cutaneous reactions) to ERT (eg, alglucosidase alfa, cipaglucosidase alfa, miglustat) or other iminosugars, or to any of the excipients, where rechallenge was unsuccessful
  • Subject has prior history of illness or condition known to affect motor function
  • Female subject is pregnant (or intends to get pregnant) or breastfeeding at screening (Cohort 1)

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants receive regular intravenous infusions of cipaglucosidase alfa and take oral miglustat capsules during a 104‑week primary treatment period. They will attend study visits for monitoring of safety and infusion‑associated reactions and undergo tests to assess drug levels, immune response (immunogenicity), and physical function (for example the 6‑minute walk test). Some participants judged by the investigator to have benefited with no significant safety concerns may be eligible for a long‑term extension.

How the study is structured. An open-label, Phase 3 interventional treatment study with two parallel, non-randomized cohorts. Participants receive intravenous cipaglucosidase alfa plus oral miglustat; there is no masking. The trial collects safety, efficacy, pharmacokinetic/pharmacodynamic, and immunogenicity data over the treatment period.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The listed sites are in Germany, Italy, Netherlands, Taiwan, United Kingdom, United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Pompe disease

Clinical trials32 trials listed for Pompe diseaseEvery trial the registry lists for Pompe disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Pompe disease researchLatest monthly update: September 2026. Includes: Antibody effects. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jul 18, 2023
Primary completion
July 2027 (estimated)
Study completion
July 2027 (estimated)
Target enrollment
36 participants (estimated)
Last updated on registry
Jan 22, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Amicus Therapeutics

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (14)

  • University of Florida Clinical Research CenterRecruiting

    Gainesville, Florida, 32610 · United States

  • The Emory ClinicRecruiting

    Atlanta, Georgia, 30322 · United States

  • Duke University Early Phase Research UnitRecruiting

    Durham, North Carolina, 27710 · United States

  • Cincinnati Children's Hospital Medical CenterRecruiting

    Cincinnati, Ohio, 54229 · United States

  • UPMC Hospital of PittsburghRecruiting

    Pittsburgh, Pennsylvania, 15224 · United States

  • University of Utah, Clinical and Translational Sciences InstituteRecruiting

    Salt Lake City, Utah, 84108 · United States

  • Universitätsklinikum Gießen und Marburg GmbH, Zentrum fur Kinderheilkunde und Jugendmedizin Abteilung fur Kinderneurologic, Sozialpadiatric und EpileptologieRecruiting

    Giessen, 35392 · Germany

  • Universitätsklinikum Heidelberg - Pädiatrisches Klinisch-Pharmakologisches Studienzentrum (paedKliPS)Recruiting

    Heidelberg, 69120 · Germany

  • SphinCS GmbHRecruiting

    Höchheim, 65239 · Germany

  • Universitätsklinikum Münster Klinik für Kinder- und Jugendmedizin Albert-Schweitzer-Campus 1Recruiting

    Münster, 48149 · Germany

Terms used on this page · explanations by MedicalUpdates.ai

open-label
No masking is used, so the assigned intervention is not deliberately hidden from participants or study staff.
PK
How the body absorbs, distributes, breaks down and removes a drug. It is studied by measuring drug levels or related substances at set times after a dose.
Cohort
A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
enrollment
The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
6-minute walk test
A test of how far a person can walk on a flat surface in six minutes. It is used to measure stamina and to track change over time.
at screening
The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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