Glycogen storage disease type II MedDRA version: 20.1 Level: PT Classification code 10053185 Term: Glycogen storage disease type II System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Interventions
Trade Name: Nexviadyme
Product Name: Avalglucosidase Alfa
Product Code: GZ402666
Pharmaceutical Form: Powder for concentrate for solution for infusion
INN or Proposed INN: avalglucosidase alfa
Current
Sponsors
Sanofi-Aventis Recherche & Développement
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: - 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
Exclusion criteria
Exclusion criteria: 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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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 participants less than or equal to 6 months of age - To determine safety, tolerability, and immunogenicity of avalglucosidase alfa - 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
| Measure | Time frame |
|---|---|
| Secondary end point(s): 1/ Proportion of participants who are alive and free of invasive ventilation at 12 and 18 months of age 2/ Proportion of participants who are alive at Week 52 3/ Proportion of participants who are alive at 12 and 18 months of age 4/ 4/ Proportion of participants who are free of ventilator use (invasive and non-invasive separate and combined) at Week 52 5/ Proportion of participants who are free of supplemental oxygen use at Week 52 6/ Change from baseline to Week 52 in LVM-Z score 7/ Change from baseline to Week 52 in AIMS score 8/ Change from baseline to Week 52 in body length Z-scores 9/ Change from baseline to Week 52 in body weight Z-scores 10/ Change from baseline to Week 52 in head circumference Z-scores 11/ Change from baseline to Week 52 in body length percentiles 12/ Change from baseline to Week 52 in body weight percentiles 13/ Change from baseline to Week 52 in head circumference percentiles 14/ Change from baseline to Week 52 in urinary Hex4 15/ Assessment of treatment-emergent adverse events (TEAE) including infusion-associated reactions (IAR) 16/ Physical examination 17/ Clinical laboratory evaluations 18/ Vital signs measurements 19/ 12-lead electrocardiogram (ECG) 20/ Immunogenicity assessments 21/ Plasma concentration of avalglucosidase alfaa;Timepoint(s) of evaluation of this end point: 1/, 3/: at 12 and 18 months of age 2/ and from 4/ to 14/ : Week 52 15/: week 52, week 212 From 16/ to 20/: Week 52, Week 208 21/ : at Day 1, Week 12, and Week 52 | — |
Countries
Belgium, China, France, Germany, Italy, Netherlands, Spain, Taiwan, United Kingdom, United States
Outcome results
None listed