Glycogen Storage Disease Type II Infantile OnsetPhase 3ROSSELLANCT04808505
A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18
A Phase 3 study testing Cipaglucosidase alfa and Miglustat in people with Glycogen Storage Disease Type II Infantile Onset, run by Amicus Therapeutics at 14 sites in 6 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Ages Up to 17 years
- Conditions the study is for
- Glycogen Storage Disease Type II Infantile Onset
- What is being tested?
- Cipaglucosidase alfa and Miglustat
- Type of treatment
- Pill or oral medicine, Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 36 participants
- Where
- 14 sitesin 6 countries
- Study dates
- 18 Jul 2023to Jul 2027
- Phase
- Phase 3
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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
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- 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):
- 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.
Who cannot join
- 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)
Trial locations and contacts
14 sites in 6 countries. Contact the study team or a site near you to ask about taking part.
14 sites in 6 countries
United States6 sites, 6 recruiting
- Recruiting
The Emory Clinic
Atlanta, Georgia, 30322
- Recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 54229
- Recruiting
Duke University Early Phase Research Unit
Durham, North Carolina, 27710
- Recruiting
University of Florida Clinical Research Center
Gainesville, Florida, 32610
- Recruiting
UPMC Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
- Recruiting
University of Utah, Clinical and Translational Sciences Institute
Salt Lake City, Utah, 84108
Germany4 sites, 4 recruiting
- Recruiting
Universitätsklinikum Gießen und Marburg GmbH, Zentrum fur Kinderheilkunde und Jugendmedizin Abteilung fur Kinderneurologic, Sozialpadiatric und Epileptologie
Giessen, 35392
- Recruiting
Universitätsklinikum Heidelberg - Pädiatrisches Klinisch-Pharmakologisches Studienzentrum (paedKliPS)
Heidelberg, 69120
- Recruiting
SphinCS GmbH
Höchheim, 65239
- Recruiting
Universitätsklinikum Münster Klinik für Kinder- und Jugendmedizin Albert-Schweitzer-Campus 1
Münster, 48149
Netherlands1 site, 1 recruiting
- Recruiting
Erasmus MC, Sophia Kinderziekenhuis
Rotterdam, 3015 GD
United Kingdom1 site, 1 recruiting
- Recruiting
Great Ormond Street Hospital for Children NHS Foundation Trust
London, WC1N3JH
About this study
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
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.
- Being tested
- Cipaglucosidase alfa, Miglustat
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cipaglucosidase alfaBiological
Also called ATB200
Sterile lyophilized powder intravenous (IV) infusion
MiglustatDrug
Also called AT2221
65 mg oral capsules
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1: Cipaglucosidase Alfa/Miglustat in ERT-experienced pediatric IOPD subjects | Experimental | Pediatric IOPD subjects 6 months to <18 years experiencing clinical decline Receives: Biological: Cipaglucosidase alfa; Drug: Miglustat |
| Cohort 2: Cipaglucosidase Alfa/Miglustat in ERT-naïve pediatric IOPD subjects | Experimental | Pediatric IOPD subjects <6 months Receives: Biological: Cipaglucosidase alfa; Drug: Miglustat |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of subjects with infusion-associated reactions (IARs)
Measured: 104 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2021
- Study start18 Jul 2023
- Primary completionJul 2027 (estimated)
- Study completionJul 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Glycogen Storage Disease Type II Infantile OnsetStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 3
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 36 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Amicus Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04808505
- Sponsor's protocol ID
- ATB200-08
- Acronym
- ROSSELLA
- Status last verified
- Jan 2026
- First submitted
- 10 Mar 2021
- Last updated
- 22 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
- Expanded access
- Available
Study at a glance
From the registry record, last updated by the sponsor on 22 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT04808505
- Acronym / sponsor ID
- ROSSELLA / ATB200-08
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 36 participants (estimated)
- Lead sponsor
- Amicus TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 18 Jul 2023 (actual)
- Primary completion
- Jul 2027 (estimated)
- Study completion
- Jul 2027 (estimated)
- First posted
- 22 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cohort 1: Cipaglucosidase Alfa/Miglustat in ERT-experienced pediatric IOPD subjects | Experimental | Biological: Cipaglucosidase alfa, Drug: MiglustatPediatric IOPD subjects 6 months to <18 years experiencing clinical decline |
| Cohort 2: Cipaglucosidase Alfa/Miglustat in ERT-naïve pediatric IOPD subjects | Experimental | Biological: Cipaglucosidase alfa, Drug: MiglustatPediatric IOPD subjects <6 months |
Who may qualify
- Ages
- Up to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (14 listed)
- 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
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Cipaglucosidase alfaAlso: ATB200Sterile lyophilized powder intravenous (IV) infusion | Biological | Cohort 1: Cipaglucosidase Alfa/Miglustat in ERT-experienced pediatric IOPD subjects, Cohort 2: Cipaglucosidase Alfa/Miglustat in ERT-naïve pediatric IOPD subjects |
| MiglustatAlso: AT222165 mg oral capsules | Drug | Cohort 1: Cipaglucosidase Alfa/Miglustat in ERT-experienced pediatric IOPD subjects, Cohort 2: Cipaglucosidase Alfa/Miglustat in ERT-naïve pediatric IOPD subjects |
Primary outcome
Proportion of subjects with infusion-associated reactions (IARs)
Time frame: 104 weeks
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jan 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
14 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing Cipaglucosidase alfa and Miglustat in people with Glycogen Storage Disease Type II Infantile Onset, run by Amicus Therapeutics at 14 sites in 6 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 14 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 22 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in United States, Germany, Italy, Netherlands, Taiwan and 1 more country. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact For Site (609-662-2000, patientadvocacy@amicusrx.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of subjects with infusion-associated reactions (IARs) (time frame: 104 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jan 2026; AzTrials last refreshed its copy on 30 Oct 2026.