Glycogen Storage Disease Type IIPhase 3Baby-COMETNCT04910776
Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa
A Phase 3 study testing avalglucosidase alfa in people with Glycogen Storage Disease Type II, run by Sanofi at 16 sites in 9 countries.
Trial summary
This is a single group, treatment, Phase 3, open-label study to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in treatment-naïve male and female participants with IOPD. Read more about this study
- Who is it for?
- Ages 0 days to 12 months
- Conditions the study is for
- Glycogen Storage Disease Type II
- What is being tested?
- avalglucosidase alfa
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 17 participants
- Where
- 16 sitesin 9 countries
- Study dates
- 1 Sep 2021to 10 Aug 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 0 days to 12 months
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Participants must have confirmed diagnosis of infantile-onset Pompe disease defined as: the presence of 2 lysosomal acid α-glucosidase (GAA) pathogenic variants and a documented GAA deficiency from blood, skin, or muscle tissue; or the presence of 1 GAA pathogenic variant and a documented GAA deficiency from blood, skin and muscle tissue in 2 separate samples (from either 2 different tissues or from the same tissue but at 2 different sampling dates).
- Participants must have established cross-reactive immunological material (CRIM) status available prior to enrollment.
- Participants must have cardiomyopathy at the time of diagnosis: ie, left ventricular mass index (LVMI) equivalent to mean age specific LVMI
- +1 standard deviation for participants diagnosed by newborn screening or sibling screening;
- +2 standard deviation for participants diagnosed by clinical evaluation.
- Parents or legally authorized representative(s) must be capable of giving signed informed consent.
Who cannot join
- Participants with symptoms of respiratory insufficiency, including any ventilation use (invasive or noninvasive) at the time of enrollment.
- Participants with major congenital abnormality.
- Participants with clinically significant organic disease (with the exception of symptoms relating to Pompe disease).
- Participant received any Pompe disease specific treatment, eg enzyme-replacement gene therapy (ERT).
- Participant who has previously been treated in any clinical trial of avalglucosidase alfa.
- Participant not suitable for participation, whatever the reason, as judged by the Investigator, including medical or clinical conditions, or participants potentially at risk of noncompliance to study procedures.
- The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.
Trial locations and contacts
16 sites in 9 countries.
16 sites in 9 countries
United States6 sites
Cincinnati Children's Hospital Medical Center- Site Number : 8400001
Cincinnati, Ohio, 45229
Duke University Medical Center- Site Number : 8400004
Durham, North Carolina, 27710
Advanced Medical Genetics- Site Number : 8400002
Hawthorne, New York, 10532
Children's Hospitals and Clinics of Minnesota- Site Number : 8400008
Minneapolis, Minnesota, 55404
Seattle Children's Hospital- Site Number : 8400003
Seattle, Washington, 98105
Stanford Hospital- Site Number : 8400006
Stanford, California, 94305
China2 sites
Investigational Site Number : 1560002
Qingdao, 266034
Investigational Site Number : 1560001
Shanghai, 200120
United Kingdom2 sites
Investigational Site Number : 8260001
London, London, City of, WC1N 3JH
Investigational Site Number : 8260002
Manchester, M13 9WL
Netherlands1 site
Investigational Site Number : 5280001
Rotterdam, 3015 CE
Spain1 site
Investigational Site Number : 7240001
Esplugues de Llobregat, Catalunya [Cataluña], 08950
About this study
Official title: An Open-label, Multinational, Multicenter, Intravenous Infusion Study of the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Avalglucosidase Alfa in Treatment naïve Pediatric Participants With Infantile-Onset Pompe Disease (IOPD)
This is a single group, treatment, Phase 3, open-label study to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in treatment-naïve male and female participants with IOPD.
Study details include:
- Study duration: Screening - up to 4 weeks;
- Primary Analysis Period (PAP) - 52 weeks;
- Extended Treatment Period (ETP) - 52 weeks;
- Extended Long term Treatment Period (ELTP) - 104 weeks; 4-week follow-up period for a total study duration - up to 4.08 years.
- Treatment duration: Up to 4 years
- Visit frequency: every other week and potentially every week
Read the detailed description
Study duration may be variable by country, including at least completion of the PAP and ETP, and up to 4.08 years.
- Conditions
- Glycogen Storage Disease Type II
- Being tested
- avalglucosidase alfa
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
avalglucosidase alfaDrug
Also called GZ402666
Sterile lyophilized powder intravenous (IV) infusion
| Study group | Role | What they receive |
|---|---|---|
| Avalglucosidase alfa | Experimental | Administered intravenously every 2 weeks Receives: Drug: avalglucosidase alfa |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of participants who are alive and free of invasive ventilation at Week 52
Measured: Week 52
Secondary outcomes (21)
Proportion of participants who are alive and free of invasive ventilation at 12 and 18 months of age
Measured: at 12 and 18 months of age
Proportion of participants who are alive at Week 52
Measured: Week 52
Proportion of participants who are alive at 12 and 18 months of age
Measured: at 12 and 18 months of age
Proportion of participants who are free of ventilator use (invasive and non-invasive separate and combined) at Week 52
Measured: Week 52
Proportion of participants who are free of supplemental oxygen use at Week 52
Measured: Week 52
Change from baseline to Week 52 in left ventricular mass (LVM)-Z score
Measured: Week 52
Change from baseline to Week 52 in Alberta Infant Motor Scale (AIMS) score
Measured: Week 52
Change from baseline to Week 52 in body length Z-scores
Measured: Week 52
Change from baseline to Week 52 in body weight Z-scores
Measured: Week 52
Change from baseline to Week 52 in head circumference Z-scores
Measured: Week 52
Change from baseline to Week 52 in body length percentiles
Measured: Week 52
Change from baseline to Week 52 in body weight percentiles
Measured: Week 52
Change from baseline to Week 52 in head circumference percentiles
Measured: Week 52
Change from baseline to Week 52 in urinary Hex4
Measured: Week 52
Number of participants experiencing at least 1 treatment-emergent adverse events (TEAE), including infusion associated reactions (IAR)
Measured: Week 52, Week 212
Number of participants with abnormalities in physical examinations
Measured: Week 52, Week 208
Number of participants with potentially clinically significant abnormality (PCSA) in clinical laboratory results
Measured: Week 52, Week 208
Number of participants with PCSA in vital signs measurements
Measured: Week 52, Week 208
Number of participants with PCSA in 12-lead electrocardiogram (ECG)
Measured: Week 52, Week 208
Incidence of treatment-emergent anti-drug antibodies (ADA)
Measured: Week 52, Week 208
Plasma concentration of avalglucosidase alfa
Measured: at Day 1, Week 12, and Week 52
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jun 2021
- Study start1 Sep 2021
- Primary completion2 Mar 2026
- Study completion10 Aug 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 IIStudies of the same condition, open and under way.
- More trials run by SanofiThe sponsor's other registered studies.
- 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
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 17 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sanofi
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Sciences & Operations, Study director, Sanofi
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04910776
- Sponsor's protocol ID
- EFC14462
- Other IDs
- U1111-1246-6645, 2024-513859-33, 2020-004686-39
- Acronym
- Baby-COMET
- Status last verified
- Apr 2026
- First submitted
- 25 May 2021
- Last updated
- 8 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Yes: Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org
Study at a glance
From the registry record, last updated by the sponsor on 8 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-label, Multinational, Multicenter, Intravenous Infusion Study of the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Avalglucosidase Alfa in Treatment naïve Pediatric Participants With Infantile-Onset Pompe Disease (IOPD)
- ClinicalTrials.gov ID
- NCT04910776
- Acronym / sponsor ID
- Baby-COMET / EFC14462
- Conditions
- Glycogen Storage Disease Type II
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 17 participants (actual)
- Lead sponsor
- SanofiIndustry (pharma, biotech, devices)
- Study start
- 1 Sep 2021 (actual)
- Primary completion
- 2 Mar 2026 (actual)
- Study completion
- 10 Aug 2027 (estimated)
- First posted
- 2 Jun 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 single group, treatment, Phase 3, open-label study to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in treatment-naïve male and female participants with IOPD.
Study details include:
- Study duration: Screening - up to 4 weeks;
- Primary Analysis Period (PAP) - 52 weeks;
- Extended Treatment Period (ETP) - 52 weeks;
- Extended Long term Treatment Period (ELTP) - 104 weeks; 4-week follow-up period for a total study duration - up to 4.08 years.
- Treatment duration: Up to 4 years
- Visit frequency: every other week and potentially every week
Detailed description
Study duration may be variable by country, including at least completion of the PAP and ETP, and up to 4.08 years.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Avalglucosidase alfa | Experimental | Drug: avalglucosidase alfaAdministered intravenously every 2 weeks |
Who may qualify
- Ages
- 0 days to 12 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (6 listed)
- Participants must have confirmed diagnosis of infantile-onset Pompe disease defined as: the presence of 2 lysosomal acid α-glucosidase (GAA) pathogenic variants and a documented GAA deficiency from blood, skin, or muscle tissue; or the presence of 1 GAA pathogenic variant and a documented GAA deficiency from blood, skin and muscle tissue in 2 separate samples (from either 2 different tissues or from the same tissue but at 2 different sampling dates).
- Participants must have established cross-reactive immunological material (CRIM) status available prior to enrollment.
- Participants must have cardiomyopathy at the time of diagnosis: ie, left ventricular mass index (LVMI) equivalent to mean age specific LVMI
- Parents or legally authorized representative(s) must be capable of giving signed informed consent.
Key exclusion criteria (7 listed)
- Participants with symptoms of respiratory insufficiency, including any ventilation use (invasive or noninvasive) at the time of enrollment.
- Participants with major congenital abnormality.
- Participants with clinically significant organic disease (with the exception of symptoms relating to Pompe disease).
- Participant received any Pompe disease specific treatment, eg enzyme-replacement gene therapy (ERT).
- Participant who has previously been treated in any clinical trial of avalglucosidase alfa.
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 |
|---|---|---|
| avalglucosidase alfaAlso: GZ402666Sterile lyophilized powder intravenous (IV) infusion | Drug | Avalglucosidase alfa |
Primary outcome
Proportion of participants who are alive and free of invasive ventilation at Week 52
Time frame: Week 52
21 secondary outcomes
Proportion of participants who are alive and free of invasive ventilation at 12 and 18 months of age
Time frame: at 12 and 18 months of age
Proportion of participants who are alive at Week 52
Time frame: Week 52
Proportion of participants who are alive at 12 and 18 months of age
Time frame: at 12 and 18 months of age
Proportion of participants who are free of ventilator use (invasive and non-invasive separate and combined) at Week 52
Time frame: Week 52
Proportion of participants who are free of supplemental oxygen use at Week 52
Time frame: Week 52
Change from baseline to Week 52 in left ventricular mass (LVM)-Z score
Time frame: Week 52
Change from baseline to Week 52 in Alberta Infant Motor Scale (AIMS) score
Time frame: Week 52
Change from baseline to Week 52 in body length Z-scores
Time frame: Week 52
Change from baseline to Week 52 in body weight Z-scores
Time frame: Week 52
Change from baseline to Week 52 in head circumference Z-scores
Time frame: Week 52
Change from baseline to Week 52 in body length percentiles
Time frame: Week 52
Change from baseline to Week 52 in body weight percentiles
Time frame: Week 52
Change from baseline to Week 52 in head circumference percentiles
Time frame: Week 52
Change from baseline to Week 52 in urinary Hex4
Time frame: Week 52
Number of participants experiencing at least 1 treatment-emergent adverse events (TEAE), including infusion associated reactions (IAR)
Time frame: Week 52, Week 212
Number of participants with abnormalities in physical examinations
Time frame: Week 52, Week 208
Number of participants with potentially clinically significant abnormality (PCSA) in clinical laboratory results
Time frame: Week 52, Week 208
Number of participants with PCSA in vital signs measurements
Time frame: Week 52, Week 208
Number of participants with PCSA in 12-lead electrocardiogram (ECG)
Time frame: Week 52, Week 208
Incidence of treatment-emergent anti-drug antibodies (ADA)
Time frame: Week 52, Week 208
Plasma concentration of avalglucosidase alfa
Time frame: at Day 1, Week 12, and Week 52
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 8 Apr 2026.
- EFC14462 Plain Language Results SummaryLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org
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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. This study is not recruiting at the moment.
Clinical Sciences & Operations study director
Sanofi
16 sites in 9 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing avalglucosidase alfa in people with Glycogen Storage Disease Type II, run by Sanofi at 16 sites in 9 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 6 inclusion and 7 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: under way, not looking for participants, as of the sponsor's last update on 8 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 sites in United States, China, United Kingdom, Belgium, Germany and 4 more countries. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of participants who are alive and free of invasive ventilation at Week 52 (time frame: Week 52). 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 8 Apr 2026.