Glycogen Storage Disease Type IIPhase 4NCT05164055
Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)
A Phase 4 study testing Avalglucosidase alfa (GZ402666) in people with Glycogen Storage Disease Type II, run by Genzyme, a Sanofi Company at 11 sites in France.
Trial summary
This long-term open label safety and efficacy study is intended to follow up, and to provide post-trial access to ERT with avalglucosidase alfa to patients with Pompe disease in France who have completed Study EFC14028, LTS13769, or ACT14132, from market authorization until the conclusion of negotiations of… Read more about this study
- Who is it for?
- Ages 6 months and older
- Conditions the study is for
- Glycogen Storage Disease Type II
- What is being tested?
- Avalglucosidase alfa (GZ402666)
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 17 participants
- Where
- 11 sitesFrance
- Study dates
- 11 Jul 2022to 30 Jun 2027
- Phase
- Phase 4
- 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 6 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patient with LOPD or IOPD who has previously completed Study EFC14028, LTS13769, or ACT14132 in France, and reimbursement for avalglucosidase alfa is not yet granted in France.
- The patient and/or their parent/legal guardian is willing and able to provide signed informed consent, and the patient, if <18 years of age, is willing to provide assent if deemed able to do so.
- The patient (and patient's legal guardian if patient is <18 years of age) must have the ability to comply with the clinical protocol.
- The patient, if female and of childbearing potential, must have a negative pregnancy test result [urine beta-human chorionic gonadotropin (β-HCG)] at enrollment.
- Sexually active female patients of childbearing potential and male patients are required to practice true abstinence in line with their preferred and usual lifestyle or to use 2 acceptable effective methods of contraception.
Who cannot join
- Patient with life-threatening hypersensitivity (anaphylactic reaction) to one of avalglucosidase alfa's excipients.
- Patient who permanently discontinued avalglucosidase alfa in a previous clinical study
- Pregnant or breastfeeding female patient
- The patient is concurrently participating in another clinical study of investigational treatment.
- The patient, in opinion of the Investigator, is unable to comply with the requirements of the study.
- The patient has clinically significant organic disease (with the exception of symptoms relating to Pompe disease), including clinically significant cardiovascular, hepatobiliary, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, precludes participation in the study or potentially decreases survival.
- Individuals accommodated in an institution because of regulatory or legal order; prisoners, or patients who are legally institutionalized.
- 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
11 sites in 1 country.
11 sites in 1 country
France11 sites
Investigational Site Number : 2500004
Bordeaux, 33000
Investigational Site Number : 2500005
Brest, 29609
Investigational Site Number : 2500008
Clermont-Ferrand, 63000
Investigational Site Number : 2500009
Lille, 59037
Investigational Site Number : 2500003
Lyon, 69003
Investigational Site Number : 2500001
Marseille, 13385
Investigational Site Number : 2500006
Nantes, 44093
Investigational Site Number : 2500007
Nice, 06200
Investigational Site Number : 2500002
Paris, 75013
Investigational Site Number : 2500010
Paris, 75015
Investigational Site Number : 2500011
Tours, 37044
About this study
Official title: A French Multicenter Open Label Phase 4 Extension Study of Long-term Safety and Efficacy in Patients With Pompe Disease Who Previously Participated in Avalglucosidase Alfa Development Studies in France
This long-term open label safety and efficacy study is intended to follow up, and to provide post-trial access to ERT with avalglucosidase alfa to patients with Pompe disease in France who have completed Study EFC14028, LTS13769, or ACT14132, from market authorization until the conclusion of negotiations of avalglucosidase alfa in France under the standard reimbursement framework on each indication independently, infantile (IOPD) and late (LOPD), or until June 2027, whichever comes first.
- Study visit frequency: every 2 weeks
Read the detailed description
From market authorization until the conclusion of negotiations of avalglucosidase alfa in France under the standard reimbursement framework on each indication independently, infantile (IOPD) and late (LOPD), or until June 2027, whichever comes first.
- Conditions
- Glycogen Storage Disease Type II
- Being tested
- Avalglucosidase alfa (GZ402666)
- 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 alfa (GZ402666)Drug
Also called Nexviadyme®
Pharmaceutical form: Sterile lyophilized powder Route of administration: intravenous (IV) infusion
| Study group | Role | What they receive |
|---|---|---|
| Avalglucosidase alfa | Experimental | Administered intravenously every other week Receives: Drug: Avalglucosidase alfa (GZ402666) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with adverse events (AE), treatment-emergent adverse events (TEAE), including infusion associated reactions (IAR) and death
Measured: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months
Secondary outcomes (9)
Assessment of six-minute walk test (distance in meters and % predicted value) for late-onset Pompe disease (LOPD) and infantile-onset Pompe disease (IOPD) participants
The primary measurement is the distance in meters walked by the participant on a flat, hard surface in 6 minutes. The distance walked in meters will be recorded and the corresponding percent predicted value will be calculated. The greater the distance (that a participant could walk in 6 minutes), the greater the endurance.
Measured: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Assessment of quick motor function test (QMFT) for LOPD participants
The QMFT is an observer administered test to evaluate changes in motor function. QMFT comprises of 16 items specifically difficult for participants with Pompe disease. Each item is scored separately on a 5-point ordinal scale (ranged from 0 to 4, higher score indicated better outcome). Total QMFT score is obtained by adding the scores of all items and ranged from 0 (unable to perform motor function tests) to 64 (normal muscle function), higher score represented better outcome.
Measured: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Pulmonary function tests (forced vital capacity [FVC] (% predicted), maximum expiratory pressure/maximum inspiratory pressure) in upright and supine positions for LOPD and IOPD participants
FVC is a standard pulmonary function test used to quantify respiratory muscle weakness. FVC is the volume of air (in liters) that can be forcibly blown out after full inspiration in the upright position, also tested in supine position. Percent of predicted FVC = (actual FVC measurement)/(predicted value of FVC) * 100.
Maximum Inspiratory Pressure (MIP) is a quick and non-invasive test to measure strength of inspiratory muscles, primarily diaphragm, and allows for assessment of ventilatory failure, restrictive lung disease and respiratory muscle strength. MIP refers to how much air pressure force an individual creates by inhaling through the mouth as hard as possible.
Maximum Expiratory Pressure (MEP) is a quick and non-invasive test to measure strength of expiratory muscles, primarily diaphragm, and allows for assessment of ventilatory failure, restrictive lung disease and respiratory muscle strength. MEP is the greater pressure generated during maximal expiration.
Measured: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Quality of life evaluation: 12-item short form health survey (SF-12) for LOPD participants
SF-12, a 12 item-questionnaire, used to assess health-related quality of life in participants aged >=18 years at screening/baseline. SF-12 consisted of 12 items, which were categorized into eight domains (subscales) of functioning and well-being: physical functioning, role-physical, role emotional, mental health, bodily pain, general health, vitality and social functioning, with each domain score ranged from 0 (poor health) to 100 (better health), higher scores indicated good health condition. These eight domains were further summarized into 2 summary scores, physical component summary (PCS) and mental component summary (MCS). The score range for each of these 2 summary scores was from 0 (poor health) to 100 (better health), higher scores indicated a better health-related quality of life.
Measured: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Quality of life evaluation: Pompe Disease Symptom Scale (PDSS) for LOPD participants
The 24-hour recall PDSS (V1.1) is a self-administered questionnaires specifically designed to capture the symptoms impacts relevant to patients with LOPD. The PDSS includes 12 questions with responses on a scale from 0 (none) to 10 (as bad as I can imagine) The data from PDSS scale will be analyzed separately and as a composite with PDIS scale.
Measured: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Quality of life evaluation: Pompe Disease Impact Scale (PDIS) for LOPD participants
The 24-hour recall PDIS (V1.2) is a self-administered questionnaires specifically designed to capture disease impacts relevant to patients with LOPD. The PDIS includes 15 questions with varying scales implemented depending on question type. The data from PDIS scale will be analyzed separately and as a composite with PDSS scale.
Measured: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Pompe Pediatric Evaluation of Disability Inventory (Pompe-PEDI) score for IOPD participants
The Pompe-PEDI consists of a Functional Skills Scale and a Caregiver Assistance Scale. Both scales have 3 domains: self-care; mobility; and social function. The Mobility Domain was selected to measure change in mobility secondary to changes in muscle strength. The domain consists of 160 mobility items.
Measured: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
PedsQL score for IOPD participants
The 23item PedsQL Generic Core Scale encompasses 4 subscales including physical, emotional, school, and social functionings. Scores are transformed to a 0-100 scale, higher scores indicate better HRQOL.
Infant scale will not be used since this is a scale for up to 24 months of age and patients are older now than that.
Measured: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Left Ventricular Mass Index (LVMI) Z-score in IOPD participants
Left Ventricular Mass Index (LVMI) equivalent to mean age specific LVMI plus 2 standard deviations.
Measured: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Dec 2021
- Study start11 Jul 2022
- Primary completion30 Jun 2027 (estimated)
- Study completion30 Jun 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.
- 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 4
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 17 participants (actual)
Sponsor and investigators
- Lead sponsor
- Genzyme, a Sanofi Company
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Sciences & Operations, Study director, Sanofi
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05164055
- Sponsor's protocol ID
- PTA17333
- Other IDs
- U1111-1266-5434, 2024-514773-22, 2021-002590-26
- Status last verified
- Sep 2026
- First submitted
- 16 Nov 2021
- Last updated
- 9 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- 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 9 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A French Multicenter Open Label Phase 4 Extension Study of Long-term Safety and Efficacy in Patients With Pompe Disease Who Previously Participated in Avalglucosidase Alfa Development Studies in France
- ClinicalTrials.gov ID
- NCT05164055
- Acronym / sponsor ID
- PTA17333
- Conditions
- Glycogen Storage Disease Type II
- Phase
- Phase 4
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 17 participants (actual)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- 11 Jul 2022 (actual)
- Primary completion
- 30 Jun 2027 (estimated)
- Study completion
- 30 Jun 2027 (estimated)
- First posted
- 20 Dec 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 long-term open label safety and efficacy study is intended to follow up, and to provide post-trial access to ERT with avalglucosidase alfa to patients with Pompe disease in France who have completed Study EFC14028, LTS13769, or ACT14132, from market authorization until the conclusion of negotiations of avalglucosidase alfa in France under the standard reimbursement framework on each indication independently, infantile (IOPD) and late (LOPD), or until June 2027, whichever comes first.
- Study visit frequency: every 2 weeks
Detailed description
From market authorization until the conclusion of negotiations of avalglucosidase alfa in France under the standard reimbursement framework on each indication independently, infantile (IOPD) and late (LOPD), or until June 2027, whichever comes first.
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 alfa (GZ402666)Administered intravenously every other week |
Who may qualify
- Ages
- 6 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Patient with LOPD or IOPD who has previously completed Study EFC14028, LTS13769, or ACT14132 in France, and reimbursement for avalglucosidase alfa is not yet granted in France.
- The patient and/or their parent/legal guardian is willing and able to provide signed informed consent, and the patient, if <18 years of age, is willing to provide assent if deemed able to do so.
- The patient (and patient's legal guardian if patient is <18 years of age) must have the ability to comply with the clinical protocol.
- The patient, if female and of childbearing potential, must have a negative pregnancy test result [urine beta-human chorionic gonadotropin (β-HCG)] at enrollment.
- Sexually active female patients of childbearing potential and male patients are required to practice true abstinence in line with their preferred and usual lifestyle or to use 2 acceptable effective methods of contraception.
Key exclusion criteria (8 listed)
- Patient with life-threatening hypersensitivity (anaphylactic reaction) to one of avalglucosidase alfa's excipients.
- Patient who permanently discontinued avalglucosidase alfa in a previous clinical study
- Pregnant or breastfeeding female patient
- The patient is concurrently participating in another clinical study of investigational treatment.
- The patient, in opinion of the Investigator, is unable to comply with the requirements of the study.
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 alfa (GZ402666)Also: Nexviadyme®Pharmaceutical form: Sterile lyophilized powder Route of administration: intravenous (IV) infusion | Drug | Avalglucosidase alfa |
Primary outcome
Number of participants with adverse events (AE), treatment-emergent adverse events (TEAE), including infusion associated reactions (IAR) and death
Time frame: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months
9 secondary outcomes
Assessment of six-minute walk test (distance in meters and % predicted value) for late-onset Pompe disease (LOPD) and infantile-onset Pompe disease (IOPD) participants
Time frame: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Assessment of quick motor function test (QMFT) for LOPD participants
Time frame: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Pulmonary function tests (forced vital capacity [FVC] (% predicted), maximum expiratory pressure/maximum inspiratory pressure) in upright and supine positions for LOPD and IOPD participants
Time frame: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Quality of life evaluation: 12-item short form health survey (SF-12) for LOPD participants
Time frame: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Quality of life evaluation: Pompe Disease Symptom Scale (PDSS) for LOPD participants
Time frame: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Quality of life evaluation: Pompe Disease Impact Scale (PDIS) for LOPD participants
Time frame: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Pompe Pediatric Evaluation of Disability Inventory (Pompe-PEDI) score for IOPD participants
Time frame: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
PedsQL score for IOPD participants
Time frame: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
Left Ventricular Mass Index (LVMI) Z-score in IOPD participants
Time frame: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months (at enrolment and every 6 months)
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 9 Sep 2026.
- PTA17333 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
11 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 4 study testing Avalglucosidase alfa (GZ402666) in people with Glycogen Storage Disease Type II, run by Genzyme, a Sanofi Company at 11 sites in France.
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 5 inclusion and 8 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 9 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in France. 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 4 studies take place after a treatment is approved, to learn more about its long-term benefits and risks in everyday use.
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?
Number of participants with adverse events (AE), treatment-emergent adverse events (TEAE), including infusion associated reactions (IAR) and death (time frame: From study enrolment to the final study visit/telephone contact, up to 4 years and 11 months). 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 9 Sep 2026.