Pompe's Disease
Conditions
Brief summary
Primary Objective: To evaluate the effect of one-year Alglucosidase alfa treatment on motor function \[Six-minute walk test (6MWT) and lung function predicted Forced vital capacity (FVC)\] among Chinese Late Onset Pompe Disease patients above 5 years old. To evaluate the safety of Myozyme 20mg/kg, IV biweekly in Chinese LOPD patients above 3 years old. Secondary Objective: To evaluate the effect of one-year treatment with Alglucosidase alfa on improvement of manual muscle test (MMT), Maximal inspiratory and expiratory pressure (MIP and MEP)\], Quick Motor Function Test scores, and health-related quality of life (SF-12) among LOPD patients over 5 years old.
Detailed description
Study duration per participants is approximatively 56 weeks including a 52-week treatment period.
Interventions
Pharmaceutical form:solution for infusion Route of administration: intravenous
Sponsors
Genzyme, a Sanofi Company
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
3 Years to No maximum
Healthy volunteers
No
Inclusion criteria
: * Patients (or and patient's legal guardian) must provide written informed consent prior to any study-related procedures * The patient must be ≥ 3 years of age at the time of enrollment. 1. For patient ≥ 3-year and \< 5-year old: must be able to walk 10 meters or climb 4-step stairs independently. 2. For patients ≥5-year old i. Must be able to ambulate 40 meters in 6 minutes without assistance ii. Must be able to successfully perform repeated forced vital capacity (VC) measurements in upright position of ≥ 30% predicted and ≤85% predicted. * The patient has confirmed Pompe's Disease with at least 2 of the following condition, 1. GAA enzyme deficiency from any tissue source. 2. 2 confirmed GAA gene mutations. 3. muscle pathology meet the diagnosis of Pompe disease. * The patient (and patient's legal guardian if patient is legally minor as defined by local regulation) must have the ability to comply with the clinical protocol. * The patient, if female and of childbearing potential, must have a negative pregnancy test (beta-human chorionic gonadotropin) at baseline.
Exclusion criteria
* Use of invasive ventilatory support (Invasive ventilation is defined as any form of ventilatory support applied with the use of an endotracheal tube.) * Use of non-invasive ventilatory support while awake and in an upright position. (Non-invasive ventilation is defined as any form of ventilatory support applied without the use of an endotracheal tube.) * Previously treated with Enzyme Replacement Treatment. * A Female patient of childbearing potential with a positive pregnancy test. * Wheelchair dependent. * The patient has a major congenital anomaly. * The patient has a medical condition, serious intercurrent illness, or other extenuating circumstance, in the opinion of the Investigator, may significantly interfere with study compliance, including all prescribed evaluations and follow-up activities. * The patients with ≥5-year old are unable to ambulate 40 meters without assistance or unable to successfully perform repeated FVC of \>30% and \<85% predicted (upright). The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change from baseline in Six-minute walk test (6MWT) for the patients ≥5-year old | Baseline to 12 months | This test measures the distance that a patient can quickly walk on a flat, hard surface in a period of 6 minutes. |
| Change from baseline in percent predicted forced vital capacity (%FVC) in upright position for the patients ≥5-year old | Baseline to 12 months | The measurements of pulmonary function and respiratory strength including FVC, MEP and MIP use a pneumograph or the spirometry system with the patient in upright seated and supine positions, according to American Thoracic Society (ATS) and European Respiratory Society (ERS) guidelines. |
| Number of participants with adverse events Number of AEs | From signing the ICF to the 30th day after the last dosage of the study medications | An adverse event (AE) is any untoward medical occurrence in a patient or clinical investigation patient administered a pharmaceutical product and which does not necessarily have to have a causal relationship with this treatment. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change from baseline in maximal inspiratory pressure (MIP) in upright position for the patients ≥5-year old | Week 52 | The measurements of pulmonary function and respiratory strength including FVC, MEP and MIP use a pneumograph or the spirometry system with the patient in upright seated and supine positions, according to American Thoracic Society (ATS) and European Respiratory Society (ERS) guidelines. |
| Change from baseline in Quick Motor Function Test scores for the patients ≥5-year old | Week 52 | The Quick Motor Function Test is a reliable and valid test for assessing motor function in patients with Pompe's disease. |
| Change from baseline in maximal expiratory pressure (MEP) in upright position for the patients ≥5-year old | Week 52 | The measurements of pulmonary function and respiratory strength including FVC, MEP and MIP use a pneumograph or the spirometry system with the patient in upright seated and supine positions, according to American Thoracic Society (ATS) and European Respiratory Society (ERS) guidelines. |
| Change from baseline in manual muscle test (MMT) for deltoid muscle, quadriceps femoris, iliopsoas, neck stretch flexor for the patients ≥5-year old | Week 52 | MMT has been reported most often as a summary score of a total number of proximal, distal, and axial muscle groups tested bilaterally or as a proximal score that sums a number of proximal muscle groups from the upper and lower extremities. |
Countries
China
Outcome results
None listed