Infantile-Onset Pompe Disease 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: MYOZYME®
Product Name: Alglucosidase Alfa
Product Code: GZ419829
Pharmaceutical Form: Powder for injection
INN or Proposed INN: ALGLUCOSIDASE ALFA
CAS Number: 420784-05-0
Current Sponsor c
Sponsors
Sanofi(China) Investment Co Ltd, Shanghai Branch
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: -Subject’s parents or legal guardians must provide written informed consent prior to any study-related procedures. -Documented onset of Pompe disease symptoms up to 12 months of age (corrected for gestation if born before 40 weeks); diagnosis of Pompe disease confirmed by acid alpha-glucosidase enzyme deficiency from any tissue source and acid alpha-glucosidase gene mutations. -Age 0-12 months at enrollment, defined as at the time of providing written informed consent. -Cardiomyopathy (abnormal left ventricular mass indices [LVMIs], measured by echocardiography, abnormal value is defined as =65 g/m2 for patients up to 12 months old) confirmed by cardiologist at study site. Are the trial subjects under 18? yes Number of subjects for this age range: 10 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: -Patient who has previously been treated with acid alpha-glucosidase. -Patient who is participating in another clinical study using any investigational therapy. -Conditions/situations such as: -Clinical signs of cardiac failure with ejection fraction 55 mm Hg [venous] or > 40 mm hydrargyrum [arterial] in room air or any ventilator use). -Patients who are dependent on invasive or non-invasive ventilator support. -Patients with major congenital anomaly or clinically significant intercurrent organic disease unrelated to Pompe disease. -Patients not suitable for participation, whatever the reason, as judged by the Investigator, including medical or clinical conditions, or patients potentially at risk of noncompliance to study procedures.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To evaluate effect of 52-week treatment with Alglucosidase Alfa in the extension of survival and improvement of cardiomyopathy measured by Left Ventricular Mass Index in Chinese patients with infantile-onset Pompe Disease.;Secondary Objective: To observe the improvement of Physical Growth, Motor and Cognitive Development of 52-week treatment with Alglucosidase Alfa in infantile-onset Pompe Disease from the baseline. To observe the efficacy on survival free of invasive ventilation, use of any ventilation support of 52- week treatment with Alglucosidase Alfa in Chinese patients with infantile-onset Pompe Disease. To evaluate the safety and tolerability of Alglucosidase Alfa in Chinese patients with infantile-onset Pompe Disease. ;Primary end point(s): 1 - Survival 2 - Left Ventricular Mass Index (LVMI);Timepoint(s) of evaluation of this end point: For 1 and 2 : at week 52 | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): 1- Invasive ventilation-free survival 2- Any ventilation-free survival 3- Growth in body weight and length 4- Motor development milestones 5- GESELL Development Scale 6- Cardiac failure;Timepoint(s) of evaluation of this end point: From 1 to 6: at week 52 | — |
Countries
China
Contacts
Public Contact-
Genzyme Europe B.V.
Outcome results
None listed