This study is currently not recruiting participants.

Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa

Study on Efficacy and Safety of Investigational Medication in Infantile-Onset Pompe Disease

Not Recruiting
12 months or below
All
Phase 3
17 participants needed

Study Overview

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

Study Details

Study duration may be variable by country, including at least completion of the PAP and ETP, and up to 4.08 years.

Eligibility Criteria

You may be eligible for this study if you meet the following criteria:

  • Conditions: Glycogen Storage Disease Type II
  • Age: 12 months or below
  • Gender: All

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • 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.

This study investigates an investigational medication for infantile-onset Pompe disease. It examines how the medication might work for those who have not been treated before.

The study evaluates the safety and effectiveness of the investigational medication. It checks how the body processes the medication and its effects over time.

  • Who can participate: Babies with a confirmed diagnosis of infantile-onset Pompe disease, specific genetic markers, and cardiomyopathy can participate with parental or guardian consent.
  • Study details: Participants will receive an investigational medication. Some may receive a placebo, which is an inactive substance that looks like the investigational medication but does not contain any medicine.
  • Study timelines: The study will last up to 4.08 years.
Updated on 23 May 2026. Study ID: NCT04910776