At a glance
- What the study gets you
- Access to the study treatment being tested
- Type of study
- Interventional (receives a drug or procedure)
- Time in hospital
- In-person visits at study sites — visit count not specified by the sponsor
- Drug or intervention
- Cipaglucosidase alfa (biological), Miglustat (drug)
- How long the study runs
- Study runs about 48 months (dates as stated)
- About the drug or intervention
- Cipaglucosidase alfa — biological: Sterile lyophilized powder intravenous (IV) infusion · Miglustat — drug: 65 mg oral capsules
- Patient visit burden
- Not specified by the sponsor
In plain English
This study looks at how safe and effective a treatment called cipaglucosidase alfa together with miglustat is for children and young people under 18 with infantile-onset Pompe disease (also called Glycogen Storage Disease Type II). Pompe disease is a rare inherited condition. The study is run by Amicus Therapeutics.
Who can take part
- Cohort 1: children and young people aged 6 months to under 18 years.
- Cohort 1: must have a documented infantile-onset Pompe disease gene result and had a thickened heart muscle (hypertrophic cardiomyopathy) when diagnosed.
- Cohort 1: must already have had enzyme replacement therapy (ERT) for at least 6 months, and have got worse on their current dose.
- Cohort 1: walking ability is needed — for example, young people aged 12 to under 18 must be able to walk at least 75 metres in a 6-minute walk test.
- Cohort 2: babies aged 0 to under 6 months with a documented infantile-onset Pompe disease gene result and hypertrophic cardiomyopathy at diagnosis, who have never had ERT.
- Long-term extension: those who, in the researcher's opinion, benefited from the treatment during the 104-week main period with no significant safety concerns.
Who may not be able to
- Those who need invasive breathing support (for example, a tracheostomy).
- CRIM negative patients who have not had (Cohort 1) or will not have (Cohort 2) preventive treatment to reduce immune reactions.
- Those who have had life-threatening allergic or hypersensitivity reactions to ERT (such as alglucosidase alfa, cipaglucosidase alfa, miglustat) or similar drugs, where trying the drug again did not work.
- Those with another illness or condition that affects movement or motor function.
- Cohort 1: those who are pregnant, planning pregnancy, or breastfeeding.
What taking part involves
- • Taking cipaglucosidase alfa together with miglustat.
- • Cohort 1 participants keep switching from their existing enzyme replacement therapy to the study treatment; Cohort 2 participants have never had ERT before.
- • The main treatment period lasts 104 weeks, with an option to continue in a long-term extension if the study doctor thinks it helped.
Time commitment: Not stated — ask the trial team about the number of visits, tests and overall time involved.
Plain-English summary (AI-generated) from registry data. Not eligibility advice — only the trial team can confirm whether you can take part. Use the eligibility checker to see how your health profile matches this trial.
- Type of study
- Testing a treatment
- Ages
- Up to 17 Years
- Who
- All
- Number of participants
- 36
- Started
- 2023-07-18
- Last checked
- 2026-01
Plain English Summary
What is this study?
- • Testing a new treatment for glycogen storage disease type ii infantile onset
- • Phase3 - 36 participants
- • 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
Who can take part?
- • Ages Up to 17 Years
- • Diagnosed with glycogen storage disease type ii infantile onset
Where?
- • London - Great Ormond Street Hospital for Children NHS Foundation Trust
This is a simplified summary. Always discuss with your doctor before making any decisions.
About This Trial
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.
Glycogen Storage Disease Type II Infantile Onset
How this trial compares with your answers
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What we know so far
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Preliminary match based on your answers. Full eligibility requires on-site assessment including medical history, physical exam, and lab tests. This does not guarantee enrolment.
Eligibility at a Glance
Key info
- Age: Up to 17 Years
- Who can join: All genders
Biomarkers mentioned
CRIM negative
Treatment history
Treatments you must have had:
- ✓ documentation of IOPD genotype
- ✓ had hypertrophic cardiomyopathy at the time of diagnosis
- ✓ received ERT for at least 6 months immediately
- ✓ experienced a clinical decline on their current rhGAA dose and frequency
What the study is looking for
- ✓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
- ✓Subjects must have experienced a clinical decline on their current rhGAA dose and frequency
Who cannot take part
- ✗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...
- ✗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)
See the full criteria
Inclusion Criteria:
Cohort 1:
1. Male or female subjects who are aged 6 months to \< 18 years on Day 1
2. Subject must have documentation of IOPD genotype
3. Subject must have had hypertrophic cardiomyopathy at the time of diagnosis
4. 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
5. 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
6. Subjects must have experienced a clinical decline on their current rhGAA dose and frequency
Cohort 2:
1. Male or female subjects who are aged 0 to \<6 months at Day 1
2. Subject must have documentation of IOPD genotype
3. Subject must have had hypertrophic cardiomyopathy at the time of diagnosis
4. Subject is ERT-naïve
Long-term Extension (Cohort 1 or Cohort 2):
1\. 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
1. Subject requires invasive ventilation (eg, tracheostomy)
2. 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)
3. 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
4. Subject has prior history of illness or condition known to affect motor function
5. Female subject is pregnant (or intends to get pregnant) or breastfeeding at screening (Cohort 1)
Where Is This Study? (1 UK site)
Great Ormond Street Hospital for Children NHS Foundation Trust
London WC1N3JH, United Kingdom
Hospital R&D contact (matched)
Main Email: Research.Governance@gosh.nhs.uk
Research.Governance@gosh.nhs.uk0207 905 2700How to Get in Touch
For Site
Sponsor contactCONTACT
609-662-2000 patientadvocacy@amicusrx.com
For Patient
Sponsor contactCONTACT
609-662-2000 patientadvocacy@amicusrx.com
Data sourced from ClinicalTrials.gov · Last verified: 2026-01