E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Patients with Pompe Disease (Type II Glycogenosis) on therapy with Enzyme Replacement Therapy (ERT) for at least 6 months |
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MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 13.1 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10036143 |
E.1.2 | Term | Pompe's disease |
E.1.2 | System Organ Class | 10010331 - Congenital, familial and genetic disorders |
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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 |
Evaluation of efficacy of therapy with Miglustat in co-administration with ERT considering: increase in the peak of activity of acid glucosidase (GAA) e/o slowing of the decline of levels of activity of GAA; decrease in serum levels of CPK |
|
E.2.2 | Secondary objectives of the trial |
-Evaluation of stabilization and/or improvement in muscular efficiency -Evaluation of safety of Miglustat in patients with Pompe disease in co-administration with ERT |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
-The patient and / or parents / legal tutors signed informed consent -Patients of both sex younger than 65 years - The patient has a diagnosis of Pompe Disease confirmed by analysis of acid a-glucosidase enzyme activity (determined on leukocytes, muscle, or fibroblasts) and molecular analysis of the GAA gene. - The patient is on enzyme replacement therapy (ERT) for at least 6 months -Fertile female with negative BhCG -Use of contraception in fertile male patients until 3 months after the last administration of investigational drug |
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E.4 | Principal exclusion criteria |
- The patient has major congenital anomalies - The patient has comorbidities (excluding symptoms related to Pompe disease) involving organs and systems, which in the opinion of the investigator would preclude their inclusion in the study and potentially reduce their survival -Female patients during pregnancy -Non compliant patients |
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E.5 End points |
E.5.1 | Primary end point(s) |
-Increase in the peak of activity of GAA and / or slowing of the decline in levels of activity of GAA -reduction in serum CPK |
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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 | No |
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) | Yes |
E.7.3 | Therapeutic confirmatory (Phase III) | No |
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 | 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) | Information not present in EudraCT |
E.8.2.2 | Placebo | Information not present in EudraCT |
E.8.2.3 | Other | Information not present in EudraCT |
E.8.3 |
The trial involves single site in the Member State concerned
| No |
E.8.4 | The trial involves multiple sites in the Member State concerned | Yes |
E.8.4.1 | Number of sites anticipated in Member State concerned | 4 |
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 | Information not present in EudraCT |
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
|
Comparsa di reazioni avverse ascrivibili all`assunzione del Miglustat che rendano svantaggioso il rapporto rischio/beneficio relativo alla somministrazione del Miglustat |
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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 | 2 |
E.8.9.1 | In the Member State concerned months | 0 |
E.8.9.1 | In the Member State concerned days | 0 |
E.8.9.2 | In all countries concerned by the trial years | 2 |
E.8.9.2 | In all countries concerned by the trial months | 0 |
E.8.9.2 | In all countries concerned by the trial days | 0 |