A Single-arm, Open-label, Phase 4 Study to Evaluate the Safety and Efficacy of Avalglucosidase Alfa in Chinese Participants With Infantile-onset Pompe Disease (IOPD)

Genzyme, a Sanofi Company1 site in 1 country13 target enrollmentMay 7, 2025

ConditionsGlycogen Storage Disease Type II Pompe's Disease

InterventionsAvalglucosidase alfa

DrugsAvalglucosidase alfa

Overview

Phase: Phase 4
Intervention: Avalglucosidase alfa
Conditions: Glycogen Storage Disease Type II
Sponsor: Genzyme, a Sanofi Company
Enrollment: 13
Locations: 1
Primary Endpoint: Incidence of AEs, SAEs, AESIs including IARs during the TE period
Status: Recruiting
Last Updated: last month

Overview Investigators Eligibility Criteria Arms & Interventions Outcomes Sites Similar Trials

Overview

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.

Registry

clinicaltrials.gov

Start Date

May 7, 2025

End Date

May 2, 2028

Last Updated

last month

Study Type

Interventional

Study Design

Single Group

Sex

All

Investigators

Sponsor

Genzyme, a Sanofi Company

Responsible Party

Sponsor

Eligibility Criteria

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.

Arms & Interventions

avalglucosidase alfa

Avalglucosidase alfa will be administered by IV infusion following reconstitution and dilution at a dose of 20 mg/kg body weight qow

Intervention: Avalglucosidase alfa

Outcomes

Primary Outcomes

Incidence of AEs, SAEs, AESIs including IARs during the TE period

Time Frame: From baseline to Week 56

Abnormality in clinical laboratory, vital signs, and ECG parameters during the TE period

Time Frame: From baseline to Week 56

Secondary Outcomes

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)