E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Pompe disease (acid alpha-glucosidase deficiency) |
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E.1.1.1 | Medical condition in easily understood language |
People with Pompe disease have low levels of an enzyme called acid alpha-glucosidase. This enzyme helps the body control levels of glycogen (a type of carbohydrate |
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E.1.1.2 | Therapeutic area | Diseases [C] - Nutritional and Metabolic Diseases [C18] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 17.1 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10036143 |
E.1.2 | Term | Pompe's disease |
E.1.2 | System Organ Class | 100000004850 |
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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 |
The objective of this study is to evaluate the efficacy and safety of treatment with 4000 L alglucosidase alfa (Lumizyme®) in Pompe patients.
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E.2.2 | Secondary objectives of the trial |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
1.The patient and/or their parent/legal guardian is willing and able to provide signed informed consent.
2.The patient must be at least 1 year of age at the time of informed consent.
3.The patient has a diagnosis of Pompe disease and must have received treatment with 160 L alglucosidase alfa prior to screening.
4.The patient, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin) at baseline. Note: all female patients of childbearing potential and sexually mature males must agree to use a medically accepted method of contraception throughout the study.
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E.4 | Principal exclusion criteria |
1.The patient has within the past 3 months received or is currently receiving any investigational product other than 160 L alglucosidase alfa or is currently participating in another clinical treatment study.
2.The patient, in the opinion of the Investigator, is clinically unstable and would not be expected to survive to completion of the 52-week treatment period.
3.The patient and/or their parent/legal guardian, in the opinion of the Investigator, is unable to adhere to the requirements of the study.
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E.5 End points |
E.5.1 | Primary end point(s) |
Percentage of participants who are clinically stable or improved at Week 52 |
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
Percentage of participants who are clinically stable or improved at Week 52 [ Time Frame: Week 52 ] |
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E.5.2 | Secondary end point(s) |
Percent survival
Percentage of participants who are invasive ventilator-free
Change from baseline on left ventricular mass Z-score (LVM-Z)
Change from baseline on Gross Motor Function Measure-88 (GMFM-88) Total Percent Score
Change from baseline in forced vital capacity (FVC) % predicted |
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
Percent survival at Week 52 [ Time Frame: Week 52 ]
Percentage of participants who are invasive ventilator-free at Week 52 [ Time Frame: Week 52 ]
Change from baseline on left ventricular mass Z-score (LVM-Z) [ Time Frame: Baseline and Week 52 ]
Change from baseline on Gross Motor Function Measure-88 (GMFM-88) Total Percent Score [ Time Frame: Baseline and Week 52 ]
Change from baseline in forced vital capacity (FVC) % predicted [ Time Frame: Baseline and Week 52 ]
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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 | Yes |
E.6.13.1 | Other scope of the trial description |
Efficacy and Safety of Alglucosidase Alfa Produced at the 4000L Scale |
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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 | Yes |
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?
| No |
E.8.4 | Will this trial be conducted at multiple sites globally? | Yes |
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 |