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

Study on Investigational Treatment for Infantile-Onset Pompe Disease

Recruiting
12 months or below
All
Phase 3
18 participants needed
5 Locations

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.

Updated on 18 Apr 2025. Study ID: NCT04910776

This study investigates an investigational medication for treating infantile-onset Pompe disease (IOPD). IOPD is a rare genetic disorder where the body lacks an enzyme called acid alpha-glucosidase, which helps break down glycogen, a type of sugar stored in muscles. This can lead to muscle weakness, heart problems, and other health issues. The purpose of the study is to assess the effectiveness and safety of the investigational medication in participants who have not received any prior treatment for IOPD.

Participants in the study will receive the investigational medication and undergo various tests to monitor their health. These tests include checking heart function and muscle strength, as well as blood tests to measure how the body processes the medication. The study will also evaluate the presence of any side effects. The investigational medication will be given through an infusion, which means it is delivered directly into the bloodstream.

  • Who can participate: Participants must have a confirmed diagnosis of infantile-onset Pompe disease and be treatment-naïve. They must have available cross-reactive immunological material status and cardiomyopathy at diagnosis. Participants with respiratory insufficiency or major congenital abnormalities are not eligible.
  • Study details: Participants will receive the investigational medication through infusions. They will have regular health checks, including heart and muscle assessments. A placebo, an inactive substance, is not used in this study.
  • Study Timelines: The study will last up to 4.08 years.

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