Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment

Study Overview
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Brief Summary
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Primary 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 Objectives: 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.

Detailed Description
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Total of 56 weeks in the study period, including an up to 28-day screening period and 52-week treatment period, followed by 30-day post-treatment observation period. After the end of 52-week treatment, patients' guardians could choose to participate in a patient assistance program (PAP) sponsored by Sanofi and launched before first patient out (FPO) or reimbursement from social insurance for continued treatment.

Official Title
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A Single Arm, Prospective, Open-label, Multi-center Study to Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment

Conditions
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Glycogen Storage Disease Type II

Intervention / Treatment
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* Drug: ALGLUCOSIDASE ALFA (MYOZYME)


Participation Criteria
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Eligibility Criteria
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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. 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 < 40%. Respiratory insufficiency (oxygen saturation < 90% or carbon dioxide partial pressure > 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. The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.

Ages Eligible for Study
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Minimum Age: 0 Months
Maximum Age: 12 Months

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Alglucosidase Alfa therapy<br>Alglucosidase Alfa dose is calculated per kg body weight and administered once every 2 weeks for up to 52 weeks. | Drug: ALGLUCOSIDASE ALFA (MYOZYME)<br>* Pharmaceutical form: cake or powder for injection Route of administration: intravenous infusion<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Survival | The proportion of patients alive at the end of study | at week 52 | 
| Left Ventricular Mass Index (LVMI) | Change from baseline in LVMI | at week 52 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Invasive ventilation-free survival | Survival free of invasive ventilator use at 52-week treatment | at week 52 | 
| Any ventilation-free survival | Survival free of any ventilator use at 52-week treatment | at week 52 | 
| Growth in body weight and length | Physical growth: Change from baseline at Week 52 with regards to length and weight | at week 52 | 
| Motor development milestones | Number of motor development milestones achieved at Week 52 and change from baseline | at week 52 | 
| GESELL Development Scale | Change from baseline at Week 52 on GESELL Developmental Scale | at week 52 | 
| Cardiac failure | Proportion of patients with signs and/or symptoms of cardiac failure at Week 52 | at week 52 |