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 |
Late-onset pompe disease in patients older then 5 years |
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E.1.1.2 | Therapeutic area | Body processes [G] - Metabolic Phenomena [G03] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 24.0 |
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 |
Investigating the safety and effectiveness of avalglucosidase alpha (AVA), formerly known as neo-GAA in patients with the late-onset form of Pompe disease who are already treated with alglucosidase alpha (Myozyme) and are deteriorating despite this therapy. |
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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 |
- Age ≥ 5 years and ≤ 55 years. - Childhood or juvenile/young adult onset. - Residing in the Netherlands - Current enzyme-replacement therapy with alglucosidase alfa ≥ 2 years (dose regimen 20 or 40 mg/kg bi-weekly). - Confirmed diagnosis: enzyme deficiency in any tissue source / 2 confirmed pathogenic variations in the GAA gene. - Willing and able to adhere to study procedures (incl. patient and/or parent/guardian signed informed consent). - Deterioration in either pulmonary function / 6MWT / muscle strength despite current treatment regimen with alglucosidase alfa. - Disease status: Measurable pulmonary (dys)function: (F)VC ≤ 80% predicted (mechanic ventilation during the day or night allowed). Measurable muscle weakness in proximal and/or distal muscle groups (non- ambulant/wheelchair bound patients allowed). Measurable functional ability.
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E.4 | Principal exclusion criteria |
- Age >55 years. - Invasive mechanical ventilation. - No remaining useful functional ability (e.g. (almost) tetraplegic), as decided by the treating physician. - Unmanageable, severe IARs on alglucosidase alfa. - Deterioration due to high levels of anti-alglucosidase alfa antibodies interfering with treatment efficacy . - Female patient of childbearing potential not protected by highly effective contraceptive method of birth control and/or who is unwilling or unable to be tested for pregnancy
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E.5 End points |
E.5.1 | Primary end point(s) |
- Muscle strength: - Muscle function: - Pulmonary function: - ‘PRO-measures’:
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
Week 12, 26 and 38 (3, 6, 9 months), and at 1 year |
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E.5.2 | Secondary end point(s) |
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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 | Yes |
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) | Yes |
E.7.4 | Therapeutic use (Phase IV) | No |
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.8.3 |
The trial involves single site in the Member State concerned
| Yes |
E.8.4 | The trial involves multiple sites in the Member State concerned | No |
E.8.5 | The trial involves multiple Member States | No |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | No |
E.8.6.2 | Trial being conducted completely outside of the EEA | No |
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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Last visit of the last subject |
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E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 5 |
E.8.9.1 | In the Member State concerned months | |
E.8.9.1 | In the Member State concerned days | |