Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of enzyme replacement therapy (ERT) With Avalglucosidase Alfa
- Conditions
- Glycogen storage disease type IIMedDRA version: 20.1Level: PTClassification code 10053185Term: Glycogen storage disease type IISystem Organ Class: 10010331 - Congenital, familial and genetic disordersTherapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Registration Number
- EUCTR2020-004686-39-DE
- Lead Sponsor
- Sanofi-Aventis Recherche & Développement
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Recruiting
- Sex
- All
- Target Recruitment
- 18
- 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, 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
Are the trial subjects under 18? yes
Number of subjects for this age range: 20
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range
Participants are excluded from the study if any of the following criteria apply:
- 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 less than or equal to 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 as 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<br>participants less than or equal to 6 months of age<br><br>- To determine safety, tolerability, and immunogenicity of avalglucosidase alfa<br><br>- To determine the 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;Timepoint(s) of evaluation of this end point: Week 52
- Secondary Outcome Measures
Name Time Method