Pompe disease (acid alpha-glucosidase deficiency) MedDRA version: 20.0 Level: LLT Classification code 10036143 Term: Pompe's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders 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
Product Name: Avalglucosidase Alfa
Product Code: GZ402666
Pharmaceutical Form: Powder for concentrate for solution for infusion
Current Sponsor code: GZ402666
Other descriptive name: RECOMBINANT HUMAN
Sponsors
Genzyme Corporation
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients with Pompe disease who previously completed an avalglucosidase alfa study. The patient and/or their parent/legal guardian is willing and able to provide signed informed consent, and the patient, if =65 years) yes F.1.3.1 Number of subjects for this age range 4
Exclusion criteria
Exclusion criteria: The patient is concurrently participating in another clinical study using investigational treatment. The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study. The patient has clinically significant organic disease (with the exception of symptoms relating to Pompe disease), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, precludes participation in the study or potentially decreases survival.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Long-term safety and pharmacokinetics (PK) of avalglucosidase alfa;Secondary Objective: Long-term effect of avalglucosidase alfa on pharmacodynamic and exploratory efficacy variables.;Primary end point(s): 1) Assessment of adverse events (AEs) and treatment-emergent adverse events (TEAEs), including infusion-associated reactions (IARs) and deaths 2) Laboratory assessments including hematology, biochemistry and urinalysis 3) Vital signs;Timepoint(s) of evaluation of this end point: 1) and 3) Screening/baseline until year 8 2) Monthly, from baseline until Year 3 then quaterly until Year 8 | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): 1) Electrocardiogram 2) Anti-avalglucosidase alfa antibodies,and neutralizing antibody formation in anti-avalglucosidase alfa positive patients; anti-alglucosidase alfa IgG antibodies 3) Cmax (Maximal concentration of the compound in the blood) 4) AUC (Area under the curve, relates to the quantity of compound that produces an effect) 5) t1/2 (half-life, which is the time needed to eliminate half of the compound) 6) Skeletal muscle glycogen content 7) Skeletal muscle magnetic resonance images for qualitative and quantitative muscle degenerative assessments 8) Urinary Hex4 9) Serum analyses of skeletal muscle RNA expression 10) Plasma analyses of circulating mRNA and micro RNA;Timepoint(s) of evaluation of this end point: 1) Every 6 months, from baseline until year 8 2) Monthly, from baseline up to 6 months, then every 3 months until Year 8 for Anti-avalglucosidase alfa antibodies,and neutralizing antibody formation in anti-avalglucosidase alfa positive patients; every 6 months from baseline until Year 8 for anti-alglucosidase alfa IgG antibodies 3), 4), 5), 8), 9) and 10) at 6 months, then yearly until Year 8 6) and 7) Every 2 years, from baseline until Year 8 | — |
Countries
Belgium, Denmark, France, Germany, Italy, Netherlands, United Kingdom, United States
Contacts
Public ContactMedical Information Genzyme Europe
Genzyme Europe B.V.
Outcome results
None listed