Taking peoplePhase 3
Tests cipaglucosidase alfa with miglustat in children with infantile-onset Pompe disease
Tests cipaglucosidase alfa with miglustat in children under 18 with infantile-onset Pompe disease.
Key facts
- Who runs it
- Amicus Therapeutics
- Where
- Garches, FranceSee the siteAlso in 7 other countries, 17 sites
- Trial code
- Registry title
- A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18
- Status
- Recruiting
- Phase
- Phase 3
- People taking part
- 36 people, planned
- Started
- 18 Jul 2023
- Expected to end
- Jul 2027
- Type of study
- Interventional, 2 groups
- Treatments tested
- Cipaglucosidase alfa
- Miglustat
- Record updated
- 22 January 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for children and teens with infantile-onset Pompe disease. Some have already had enzyme replacement therapy (ERT), and some have not.
- Age
- Cohort 1: 6 months to under 18 years. Cohort 2: 0 to under 6 months.
- Sex
- Boys and girls can join.
- Disease stage
- Infantile-onset Pompe disease (IOPD) with a documented IOPD genotype and enlarged, thickened heart muscle (hypertrophic cardiomyopathy) when diagnosed.
- Earlier treatment
- Cohort 1: ERT for at least 6 months right before joining, with clinical decline on the current dose. Cohort 2: no ERT before.
- Biomarker or test result
- A documented IOPD genotype is needed. Children who are CRIM negative need preventive immune-modulating treatment.
Main reasons for not taking part
- Needs invasive ventilation, such as a tracheostomy
- CRIM negative without preventive immune-modulating treatment
- Past life-threatening reaction or hypersensitivity to ERT, other iminosugars or ingredients, where a retry failed
- Past illness or condition that affects movement
- Pregnant, planning pregnancy or breastfeeding (Cohort 1)
The registry criteria, word for word
Show all 18 criteriaShow less
Who can take part
- 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
Who cannot take part
- 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
- Cohort 1 and Cohort 2, unless specified
- Subject requires invasive ventilation (eg, tracheostomy)
- Female subject is pregnant (or intends to get pregnant) or breastfeeding at screening (Cohort 1)
Where in France
Also in 7 other countries, 17 sites
- Raymond-Poincare HospitalGarches, FranceNo longer taking part
About the trial
What the trial wants to find out
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.
The 2 groups in the trial
- Cohort 1: Cipaglucosidase Alfa/Miglustat in ERT-experienced pediatric IOPD subjectsTreatment being tested
Pediatric IOPD subjects 6 months to \<18 years experiencing clinical decline
Treatment: Cipaglucosidase alfa and Miglustat
- Cohort 2: Cipaglucosidase Alfa/Miglustat in ERT-naïve pediatric IOPD subjectsTreatment being tested
Pediatric IOPD subjects \<6 months
Treatment: Cipaglucosidase alfa and Miglustat
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov and on the EU's official list of trials (CTIS).
- Official title
- 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
- Plain-language title
- Tests cipaglucosidase alfa with miglustat in children with infantile-onset Pompe diseaseGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 12 November 2026.
- Record updated
- 22 January 2026