Glycogen Storage Disease Type II, Pompe's Disease
Conditions
Brief summary
This is a single group, 52-week treatment, Phase 4, open-label, single-arm study to assess the safety and efficacy of avalglucosidase alfa IV infusion in male and female Chinese participants with IOPD who are treatment-naïve or were previously treated with ERT. Study details include: * The study duration: total study duration is approximately 64 weeks. * Screening period of up to 8 weeks * Treatment period of 52 weeks * Follow-up period of 4 weeks. (if the participant enrolls in another study or receives commercially available ERT, the follow-up period may be reduced from 4 to 2 weeks) * The number of visits will be 30, including 29 site visits and 1 phone call follow-up visit.
Interventions
Pharmaceutical form: Sterile lyophilized powder Route of administration: IV infusion
Sponsors
Genzyme, a Sanofi Company
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
No minimum to 17 Years
Healthy volunteers
No
Inclusion criteria
* Participant must be \<18 years of age, at the time of signing the informed consent. * Participants have documented onset of Pompe disease symptoms before 12 months of age (corrected for gestation if born before 40 weeks); and diagnosis of IOPD is confirmed by GAA enzyme deficiency from any tissue source and GAA gene pathogenic mutations. * Participants must have documented cardiomyopathy at the time of diagnosis. * Contraceptive use should be consistent with local regulations Participant's parent/legally authorized representative (LAR) must be capable of giving signed informed consent.
Exclusion criteria
Participants are excluded from the study if any of the following criteria apply: * Participants with major congenital abnormality that, in the opinion of the Investigator, would preclude participation in the study or potentially decrease survival. * Participants with clinically significant organic disease (with the exception of symptoms relating to Pompe disease). * Participants who have received an ERT other than alglucosidase alfa or avalglucosidase alfa, or any other treatment for Pompe disease, including gene therapy prior to the enrollment. * Participants who have received alglucosidase alfa or avalglucosidase alfa less than 1 week prior to the first dose of avalglucosidase alfa given as IMP Participants who are anticipated to take prohibited therapy (ie, any other treatment for Pompe disease) during this study. * Participants who have taken other investigational drugs (not Pompe disease specific) within 30 days or 5 elimination half-lives in blood of that drug before enrollment, whichever is longer, or are anticipated to take any other concurrent investigational treatments. * Participants 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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Incidence of AEs, SAEs, AESIs including IARs during the TE period | From baseline to Week 56 |
| Abnormality in clinical laboratory, vital signs, and ECG parameters during the TE period | From baseline to Week 56 |
Secondary
| Measure | Time frame |
|---|---|
| Proportion of participants who are alive and free of invasive ventilation at Week 52 | At Week 52 |
| Change from baseline to Week 52 in LVM Z score evaluated by echocardiography | From baseline to Week 52 |
| The absolute change in body growth Z scores from baseline to Week 52 | From baseline to Week 52 |
| The percentiles of the body growth Z scores changes from baseline to Week 52 | From baseline to Week 52 |
| Change from baseline to Week 52 in distance walked during six-minute walk test (6MWT) (in applicable participants) | From baseline to Week 52 |
| Change from baseline to Week 52 in quick motor function test (QMFT) score (in applicable participants) | From baseline to Week 52 |
| Number of motor development milestones achieved as evaluated by Motor Milestone Checklist at Week 52 | At Week 52 |
Countries
China
Contacts
CONTACTTrial Transparency email recommended (Toll free for US & Canada)
Outcome results
None listed