E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
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E.1.1.1 | Medical condition in easily understood language |
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E.1.1.2 | Therapeutic area | Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] |
MedDRA Classification |
E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
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.
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E.2.2 | Secondary objectives of the trial |
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. |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal 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. a. For patient ≥ 3-year and < 5-year old: must be able to walk 10 meters or climb 4-step stairs independently. b. 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, a. GAA enzyme deficiency from any tissue source. b. 2 confirmed GAA gene mutations. c. 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.
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E.4 | Principal 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).
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E.5 End points |
E.5.1 | Primary end point(s) |
1 Change from baseline in Six-minute walk test (6MWT) for the patients ≥5-year old
2 - Change from baseline in percent predicted forced vital capacity (%FVC) in upright position for the patients ≥5-year old
3 - Number of participants with adverse events Number of AEs
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
1 and 2: Baseline to 12 months
3: From signing the ICF to the 30th day after the last dosage of the study medications |
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E.5.2 | Secondary end point(s) |
Change from baseline in maximal inspiratory pressure (MIP) in upright position for the patients ≥5-year old Change from baseline in maximal expiratory pressure (MEP) in upright position for the patients ≥5-year old Change from baseline in manual muscle test (MMT) for deltoid muscle, quadriceps femoris, iliopsoas, neck stretch flexor for the patients ≥5-year old Change from baseline in Quick Motor Function Test scores for the patients ≥5-year old Change from baseline in 12- Item Short-form health survey scores for the patients ≥5-year old |
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
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E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | Yes |
E.6.4 | Safety | Yes |
E.6.5 | Efficacy | Yes |
E.6.6 | Pharmacokinetic | No |
E.6.7 | Pharmacodynamic | No |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | No |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | No |
E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | No |
E.7.1.1 | First administration to humans | No |
E.7.1.2 | Bioequivalence study | No |
E.7.1.3 | Other | No |
E.7.1.3.1 | Other trial type description | |
E.7.2 | Therapeutic exploratory (Phase II) | No |
E.7.3 | Therapeutic confirmatory (Phase III) | No |
E.7.4 | Therapeutic use (Phase IV) | Yes |
E.8 Design of the trial |
E.8.1 | Controlled | No |
E.8.1.1 | Randomised | No |
E.8.1.2 | Open | No |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | No |
E.8.1.5 | Parallel group | No |
E.8.1.6 | Cross over | No |
E.8.1.7 | Other | No |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | No |
E.8.2.2 | Placebo | No |
E.8.2.3 | Other | No |
E.8.2.4 | Number of treatment arms in the trial | 1 |
E.8.3 |
Will this trial be conducted at a single site globally?
| Yes |
E.8.4 | Will this trial be conducted at multiple sites globally? | No |
E.8.6 Trial involving sites outside the EEA |
E.8.6.2 | Trial being conducted completely outside of the EEA | Yes |
E.8.6.3 | Specify the countries outside of the EEA in which trial sites are planned |
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E.8.7 | Trial has a data monitoring committee | No |
E.8.8 |
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
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E.8.9 Initial estimate of the duration of the trial |
E.8.9.2 | In all countries concerned by the trial years | 3 |
E.8.9.2 | In all countries concerned by the trial months | 4 |