An Open-label, Multinational, Multicenter, Intravenous Infusion Study of the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of avalglucosidase alfa in Treatment-naïve Pediatric Participants with Infantile-Onset Pompe Disease (IOPD)
- Conditions
- acid alpha glucosidase deficiencyPompe Disease10027424
- Registration Number
- NL-OMON52076
- Lead Sponsor
- Genzyme Europe BV
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 1
- 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.
- 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 enzyme-replacement therapy (ERT) with recombinant human
acid a
glucosidase (rhGAA) from any source.
- 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
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>To determine the effect of avalglucosidase alfa treatment on survival and<br /><br>invasive ventilator-free survival of IOPD participants after 52 weeks of<br /><br>treatment.</p><br>
- Secondary Outcome Measures
Name Time Method <p>To determine the effect of avalglucosidase alfa treatment on survival and<br /><br>invasive ventilator-free survival at 12 and 18 months of age, as well the<br /><br>change in left ventricular mass Z-score (LVM Zscore); Alberta Infant Motor<br /><br>Scale (AIMS) score; body length, body weight, and head circumference Z-scores;<br /><br>and urinary Hex4 at Week 52<br /><br>To determine safety, tolerability, and immunogenicity of avalglucosidase alfa<br /><br>To determine the PK profile at Week 12 and Week 52</p><br>