Genetic and Metabolism
Conditions
Interventions
Case series:Alglucosidase Alfa treatment
Sponsors
Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine
Eligibility
Sex/Gender
All
Age
No minimum to 1 Years
Inclusion criteria
Inclusion criteria: 1. Subjects parents or legal guardians must provide the written informed consent prior to any study-related procedures; 2. With 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 GAA enzyme deficiency from any tissue source and GAA gene mutations; 3. Age with 0-12 months at enrollment; 4. 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. Defined as at the time providing written informed consent.
Exclusion criteria
Exclusion criteria: 1. Patient who has previously been treated with GAA; 2. Patient who is participating in another clinical study using any investigational therapy; 3. Conditions/situations such as: (1) Clinical signs of cardiac failure with ejection fraction 55 mm Hg [venous] or > 40 mm Hg [arterial] in room air or any ventilator use); (3) Patients who are dependent on invasive or non-invasive ventilator support; (4) Patient with major congenital anomaly or clinically significant intercurrent organic disease unrelated to Pompe disease; (5) Patient 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 |
|---|---|
| Primary endpoints are survival (using Kaplan-Meier methodology); change from baseline in Left ventricular mass index at 52-week treatment.; | — |
Secondary
| Measure | Time frame |
|---|---|
| safety include incidence of AEs, discontinuation due to AEs, drug-related, serious, and severe AEs; Clinical and laboratory safety assessments include: clinical hematology, chemistry, and urinalysis; Other safety endpoints include anti-rhGAA antibody (Ig G) (optional), vital signs (body temperature, ECG;Efficacy: Survival free of invasive ventilator; Survival free of any ventilator; Physical growth: change from baseline; Number of motor development milestones; | — |
Countries
China
Contacts
Public ContactShumin Chen
Sanofi (China) Investment Co., Ltd.
Outcome results
None listed