E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Glycogen storage disease type II |
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E.1.1.1 | Medical condition in easily understood language |
Glycogen storage disease type II |
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E.1.1.2 | Therapeutic area | Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 20.1 |
E.1.2 | Level | PT |
E.1.2 | Classification code | 10053185 |
E.1.2 | Term | Glycogen storage disease type II |
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 |
To assess long-term safety in patients in France who have completed Study EFC14028, LTS13769, or ACT14132, from market authorization until reimbursement of avalglucosidase alfa in France or until January 2023, whichever comes first. |
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E.2.2 | Secondary objectives of the trial |
To assess long-term efficacy in patients in France who have completed Study EFC14028, LTS13769, or ACT14132, from market authorization until reimbursement of avalglucosidase alfa in France or until January 2023, whichever comes first. |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
- Patient with Pompe Disease who has previously completed Study EFC14028, LTS13769, or ACT14132 of avalglucosidase alfa studies in France. - The patient and/or their parent/legal guardian is willing and able to provide signed informed consent, and the patient, if <18 years of age, is willing to provide assent if deemed able to do so. - The patient (and patient's legal guardian if patient is <18 years of age) must have the ability to comply with the clinical protocol. - The patient, if female and of childbearing potential, must have a negative pregnancy test result [urine beta-human chorionic gonadotropin (β-HCG)] at enrollment. - Sexually active female patients of childbearing potential and male patients are required to practice true abstinence in line with their preferred and usual lifestyle or to use 2 acceptable effective methods of contraception. |
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E.4 | Principal exclusion criteria |
Participants are excluded from the study if any of the following criteria apply: - Patient with life-threatening hypersensitivity (anaphylactic reaction) to one of avalglucosidase alfa's excipients. - The patient is concurrently participating in another clinical study of investigational treatment. - The patient has clinically significant organic disease (with the exception of symptoms relating to Pompe disease), including clinically significant cardiovascular, hepatobiliary, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, precludes participation in the study or potentially decreases survival. |
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E.5 End points |
E.5.1 | Primary end point(s) |
1/ Number of participants with adverse events (AE), treatment-emergent adverse events (TEAE), including infusion associated reactions (IAR) and death 2/ Number of participants with abnormalities in physical examinations 3/ Number of participants with abnormalities in vital signs measurements 4/ Number of participants with abnormalities in clinical laboratory results 5/ Number of participants with abnormalities in 12- lead electrocardiogram (ECG) 6/ Incidence of treatment-emergent anti-drug antibodies (ADA) |
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
For all items : From baseline until reimbursement or January 2023, whichever comes first |
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E.5.2 | Secondary end point(s) |
1/ Evolution of clinical status for late-onset Pompe disease (LOPD) and infantile-onset Pompe disease (IOPD) participants 2/ Assessment of six-minute walk test (distance in meters and % predicted value) for LOPD and IOPD participants 3/ Assessment of quick motor function test (QMFT) for LOPD participants 4/ Pulmonary function tests (forced vital capacity [FVC] (% predicted), maximum expiratory pressure/maximum inspiratory pressure) in upright and supine positions for LOPD and IOPD participants 5/ Quality of life evaluation: 12-item short form health survey (SF-12) for LOPD participants 6/ Quality of life evaluation: Pompe Disease Symptom Scale (PDSS) for LOPD participants 7/ Quality of life evaluation: Pompe Disease Impact Scale (PDIS) for LOPD participants 8/ Pompe Pediatric Evaluation of Disability Inventory (Pompe-PEDI) score for IOPD participants 9/ PedsQL score for IOPD participants 10/ Left Ventricular Mass Index (LVMI) Z-score in IOPD participants
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
For all items : Every 6 months, from baseline until reimbursement or January 2023, whichever comes first |
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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) | 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 | Yes |
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 |
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 | 11 |
E.8.5 | The trial involves multiple Member States | No |
E.8.5.1 | Number of sites anticipated in the EEA | 11 |
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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E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | |
E.8.9.1 | In the Member State concerned months | 16 |
E.8.9.1 | In the Member State concerned days | |
E.8.9.2 | In all countries concerned by the trial months | 16 |