Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa
- Conditions
- Glycogen storage disease type IIMedDRA version: 20.1Level: PTClassification code: 10053185Term: Glycogen storage disease type II Class: 100000004850Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Registration Number
- CTIS2024-513859-33-00
- Lead Sponsor
- Sanofi-Aventis Recherche & Developpement
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 21
Participants must have confirmed diagnosis of infantile-onset Pompe disease defined as: the presence of 2 lysosomal acid a-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.
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 ERT gene therapy., 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.
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Main Objective: To determine the effect of avalglucosidase alfa treatment on survival and invasive ventilator-free survival of IOPD participants = 6 months of age after 52 weeks of treatment.;Secondary Objective: To determine the effect of avalglucosidase alfa treatment on survival and invasive ventilator-free survival at 12 and 18 months of age, as well the change in left ventricular mass Z-score (LVM Z-score); Alberta Infant Motor Scale (AIMS) score; body length, body weight, and head circumference Z scores; and urinary Hex4 at Week 52 in IOPD participants = 6 months of age, To determine safety, tolerability, and immunogenicity of avalglucosidase alfa, To determine the pharmacokinetic (PK) profile at Week 12 and Week 52;Primary end point(s): Proportion of participants who are alive and free of invasive ventilation at Week 52
- Secondary Outcome Measures
Name Time Method