Glycogen Storage Disease Type IINCT04848779
A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)
An observational study of Glycogen Storage Disease Type II, run by Sanofi at 15 sites in 9 countries.
Trial summary
Primary Objective: To describe the effect of routine practice with alglucosidase alfa in patients with IOPD ≤6 months of age, on invasive ventilation-free survival after 52 weeks of treatment. Read more about this study
- Who is it for?
- Ages 0 days to 6 months
- Conditions the study is for
- Glycogen Storage Disease Type II
- What is being tested?
- Alglucosidase alfa GZ419829
- Type of treatment
- Injection or infusion
- How many people
- 16 participants
- Where
- 15 sitesin 9 countries
- Study dates
- 10 Jun 2021to 28 Oct 2026
- How long will I take part?
- 104 Weeks
- Phase
- Observational
- 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 6 months
- All sexes
- No healthy volunteers
- Child
Study population: Confirmly diagnosed IOPD patients 6 months or less of age (corrected for gestational age if needed), treated or planned to be treated with alglucosidase alfa, at the time of study inclusion.
Who may be able to join
- At the time of informed consent, participants must be ≤6 months of age, corrected for gestation if necessary. Gestational age <40 weeks will be adjusted to a full-term gestational age of 40 weeks.
- Participants must have alglucosidase alfa enzyme replacement therapy (ERT) planned or initiated for IOPD treatment irrespective of study participation, according to the treating physician's decision regarding participants' routine disease management.
- Participants must have available and accessible medical records from the time of IOPD diagnosis and from subsequent follow-up.
- Participants must have a confirmed diagnosis of IOPD, defined as presence of 2 pathogenic acid alpha glucosidase (GAA) variants and documented GAA deficiency in blood (dried blood spot [DBS] accepted), skin, or muscle tissue, or presence of 1 pathogenic GAA variant and documented GAA deficiency in blood, skin, or muscle tissue from separate samples (either from 2 different tissues or from the same tissue but at 2 different sampling dates.) (DBS and leukocytes are acceptable as 2 different samples from blood).
- Participants must have established cross-reacting immunologic material (CRIM) status available prior to enrollment. CRIM status may be provided by historical CRIM testing results or prediction of CRIM status based on genotyping performed at a Clinical Laboratory Improvement Amendments (CLIA) or other appropriately certified genetic laboratory.
- Participants must have cardiomyopathy at the time of diagnosis (LVMI equivalent to mean age-specific LVMI):
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- LVMI +1 standard deviation (SD) in participants diagnosed by newborn or sibling screening,
- LVMI +2 SD in participants diagnosed by clinical evaluation.
- Participants must have informed consent provided by parent(s)/legally acceptable representatives (LARs).
Who cannot join
- Participants with respiratory insufficiency, defined as:
- Oxygen saturation <90% on room air as determined by pulse oximetry,
- Venous partial pressure of carbon dioxide (pCO2) >55 mmHg or arterial pCO2 >40 mmHg on room air,
- Use of invasive (with intubation or tracheostomy) or noninvasive (no intubation or tracheostomy) ventilation at enrollment, for participants not having started ERT at enrollment,
- Use of invasive or noninvasive ventilation at the time of ERT initiation, for participants having started ERT before enrollment.
- Participants with major congenital abnormality including heart defect, neural tube defect, or Down syndrome that, in the opinion of the investigator, would preclude participation in the study or potentially decrease survival.
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- Participants with clinically significant organic disease other than signs/symptoms related to Pompe disease, including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or circumstance that, in the opinion of the investigator, would preclude participation or potentially decrease survival.
- Previous or ongoing treatment in any clinical trial of, or managed access program for, avalglucosidase alfa or any other Pompe disease-specific therapy.
- 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
15 sites in 9 countries.
15 sites in 9 countries
United States5 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
Le Bonheur Children's Hospital- Site Number : 8400005
Memphis, Tennessee, 38103
Seattle Children's Hospital- Site Number : 8400003
Seattle, Washington, 98105
Italy2 sites
Investigational Site Number : 3800001
Florence, 50139
Investigational Site Number : 3800002
Monza, Monza E Brianza, 20052
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: A Prospective Observational Study to Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)
Primary Objective:
To describe the effect of routine practice with alglucosidase alfa in patients with IOPD ≤6 months of age, on invasive ventilation-free survival after 52 weeks of treatment.
Read more
Secondary Objectives:
- To describe the effect of routine practice with alglucosidase alfa on invasive ventilation-free survival and survival at 12 and 18 months of age, as well as on change in left ventricular mass (LVM) Z score, Alberta Infant Motor Scale (AIMS) score, body weight, body length, and head circumference Z scores, and urinary glucose tetrasaccharide (Hex4), at Week 52 of treatment.
- To describe the safety, tolerability, and immunogenicity of alglucosidase alfa in the routine practice of IOPD treatment.
Read the detailed description
The planned duration of observation for each participant will be 104 weeks after enrollment, to determine secondary outcomes at 18 months (approximately 78 weeks) of age.
- Conditions
- Glycogen Storage Disease Type II
- Being tested
- Alglucosidase alfa GZ419829
- 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.
Alglucosidase alfa GZ419829Drug
Also called Myozyme
Pharmaceutical form: Lyophilized powder for solution
Route of administration: intravenous
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 | Not described Receives: Drug: Alglucosidase alfa GZ419829 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of participants alive and free of invasive ventilation at Week 52 of treatment
Measured: Week 52
Secondary outcomes (19)
Proportion of participants alive and free of invasive ventilation at 12 and 18 months of age
Measured: at 12 and 18 months of age
Proportion of participants alive at Week 52 of treatment
Measured: Week 52
Proportion of participants alive at 12 months and 18 months of age
Measured: at 12 and 18 months of age
Proportion of participants free of ventilator use and free of supplemental oxygen use at Week 52
Measured: Week 52
Change from baseline to Week 52 in LVM Z score
Measured: from baseline to Week 52
Change from baseline to Week 52 in AIMS score
Measured: from baseline to Week 52
Change from baseline to Week 52 in body length Z-scores
Measured: from baseline to Week 52
Change from baseline to Week 52 in body weight Z-scores
Measured: from baseline to Week 52
Change from baseline to Week 52 in head circumference Z-scores
Measured: from baseline to Week 52
Change from baseline to Week 52 in body length percentiles
Measured: from baseline to Week 52
Change from baseline to Week 52 in body weight percentiles
Measured: from baseline to Week 52
Change from baseline to Week 52 in head circumference percentiles
Measured: from baseline to Week 52
Change from baseline to Week 52 in urinary Hex4
Measured: from baseline to Week 52
Number of participants experiencing at least 1 treatment-emergent adverse events (TEAE), including infusion-associated reactions (IAR)
Measured: From inclusion for 104 weeks
Number of participants with abnormalities in physical examinations
Measured: From inclusion for 104 weeks
Number of participants with abnormalities in clinical laboratory results
Measured: From inclusion for 104 weeks
Number of participants with abnormalities in vital signs measurements
Measured: From inclusion for 104 weeks
Number of participants with abnormalities in 12-lead electrocardiogram (ECG)
Measured: From inclusion for 104 weeks
Incidence of treatment-emergent antidrug antibodies (ADA)
Measured: From inclusion for 104 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Apr 2021
- Study start10 Jun 2021
- Primary completion28 Oct 2026 (estimated)
- Study completion28 Oct 2026 (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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 16 participants (estimated)
- Target duration
- 104 Weeks
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
- NCT04848779
- Sponsor's protocol ID
- OBS17003
- Other IDs
- U1111-1266-4848
- Status last verified
- Jun 2026
- First submitted
- 29 Mar 2021
- Last updated
- 24 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- 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 24 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective Observational Study to Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)
- ClinicalTrials.gov ID
- NCT04848779
- Acronym / sponsor ID
- OBS17003
- Conditions
- Glycogen Storage Disease Type II
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 16 participants (estimated)
- Lead sponsor
- SanofiIndustry (pharma, biotech, devices)
- Study start
- 10 Jun 2021 (actual)
- Primary completion
- 28 Oct 2026 (estimated)
- Study completion
- 28 Oct 2026 (estimated)
- First posted
- 19 Apr 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.
Primary Objective:
To describe the effect of routine practice with alglucosidase alfa in patients with IOPD ≤6 months of age, on invasive ventilation-free survival after 52 weeks of treatment.
Secondary Objectives:
- To describe the effect of routine practice with alglucosidase alfa on invasive ventilation-free survival and survival at 12 and 18 months of age, as well as on change in left ventricular mass (LVM) Z score, Alberta Infant Motor Scale (AIMS) score, body weight, body length, and head circumference Z scores, and urinary glucose tetrasaccharide (Hex4), at Week 52 of treatment.
- To describe the safety, tolerability, and immunogenicity of alglucosidase alfa in the routine practice of IOPD treatment.
Detailed description
The planned duration of observation for each participant will be 104 weeks after enrollment, to determine secondary outcomes at 18 months (approximately 78 weeks) of age.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 104 Weeks
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | – | Drug: Alglucosidase alfa GZ419829 |
Who may qualify
- Ages
- 0 days to 6 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Confirmly diagnosed IOPD patients 6 months or less of age (corrected for gestational age if needed), treated or planned to be treated with alglucosidase alfa, at the time of study inclusion.
Key inclusion criteria (9 listed)
- At the time of informed consent, participants must be ≤6 months of age, corrected for gestation if necessary. Gestational age <40 weeks will be adjusted to a full-term gestational age of 40 weeks.
- Participants must have alglucosidase alfa enzyme replacement therapy (ERT) planned or initiated for IOPD treatment irrespective of study participation, according to the treating physician's decision regarding participants' routine disease management.
- Participants must have available and accessible medical records from the time of IOPD diagnosis and from subsequent follow-up.
- Participants must have a confirmed diagnosis of IOPD, defined as presence of 2 pathogenic acid alpha glucosidase (GAA) variants and documented GAA deficiency in blood (dried blood spot [DBS] accepted), skin, or muscle tissue, or presence of 1 pathogenic GAA variant and documented GAA deficiency in blood, skin, or muscle tissue from separate samples (either from 2 different tissues or from the same tissue but at 2 different sampling dates.) (DBS and leukocytes are acceptable as 2 different samples from blood).
- Participants must have established cross-reacting immunologic material (CRIM) status available prior to enrollment. CRIM status may be provided by historical CRIM testing results or prediction of CRIM status based on genotyping performed at a Clinical Laboratory Improvement Amendments (CLIA) or other appropriately certified genetic laboratory.
Key exclusion criteria (9 listed)
- Participants with respiratory insufficiency, defined as:
- Participants with major congenital abnormality including heart defect, neural tube defect, or Down syndrome that, in the opinion of the investigator, would preclude participation in the study or potentially decrease survival.
- Participants with clinically significant organic disease other than signs/symptoms related to Pompe disease, including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or circumstance that, in the opinion of the investigator, would preclude participation or potentially decrease survival.
- Previous or ongoing treatment in any clinical trial of, or managed access program for, avalglucosidase alfa or any other Pompe disease-specific therapy.
- The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.
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 |
|---|---|---|
| Alglucosidase alfa GZ419829Also: MyozymePharmaceutical form: Lyophilized powder for solution Route of administration: intravenous | Drug | Cohort 1 |
Primary outcome
Proportion of participants alive and free of invasive ventilation at Week 52 of treatment
Time frame: Week 52
19 secondary outcomes
Proportion of participants 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 alive at Week 52 of treatment
Time frame: Week 52
Proportion of participants alive at 12 months and 18 months of age
Time frame: at 12 and 18 months of age
Proportion of participants free of ventilator use and free of supplemental oxygen use at Week 52
Time frame: Week 52
Change from baseline to Week 52 in LVM Z score
Time frame: from baseline to Week 52
Change from baseline to Week 52 in AIMS score
Time frame: from baseline to Week 52
Change from baseline to Week 52 in body length Z-scores
Time frame: from baseline to Week 52
Change from baseline to Week 52 in body weight Z-scores
Time frame: from baseline to Week 52
Change from baseline to Week 52 in head circumference Z-scores
Time frame: from baseline to Week 52
Change from baseline to Week 52 in body length percentiles
Time frame: from baseline to Week 52
Change from baseline to Week 52 in body weight percentiles
Time frame: from baseline to Week 52
Change from baseline to Week 52 in head circumference percentiles
Time frame: from baseline to Week 52
Change from baseline to Week 52 in urinary Hex4
Time frame: from baseline to Week 52
Number of participants experiencing at least 1 treatment-emergent adverse events (TEAE), including infusion-associated reactions (IAR)
Time frame: From inclusion for 104 weeks
Number of participants with abnormalities in physical examinations
Time frame: From inclusion for 104 weeks
Number of participants with abnormalities in clinical laboratory results
Time frame: From inclusion for 104 weeks
Number of participants with abnormalities in vital signs measurements
Time frame: From inclusion for 104 weeks
Number of participants with abnormalities in 12-lead electrocardiogram (ECG)
Time frame: From inclusion for 104 weeks
Incidence of treatment-emergent antidrug antibodies (ADA)
Time frame: From inclusion for 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 24 Jun 2026.
- 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
15 sites in 9 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Glycogen Storage Disease Type II, run by Sanofi at 15 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 9 inclusion and 9 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 24 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 15 sites in United States, Italy, United Kingdom, Belgium, France 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.
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 alive and free of invasive ventilation at Week 52 of treatment (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 24 Jun 2026.