E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Charcot-Marie-Tooth disease type 1A CMT1A |
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MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 6.1 |
E.1.2 | Level | HLGT |
E.1.2 | Classification code | 10034606 |
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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 the efficacy and safety of chronic treatment with ascorbic acid versus placebo in CMT1A through a multicentre randomised double-blind controlled trial. |
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E.2.2 | Secondary objectives of the trial |
To develop and validate an evaluation protocol that is suitable for future trials in CMT disease. To establish a network of centres with long-lasting experience in CMT in which such a protocol can be homogeneously applied. |
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E.2.3 | Trial contains a sub-study | Information not present in EudraCT |
E.3 | Principal inclusion criteria |
1. Clinical diagnosis of CMT1A; 2. Genetic confirmation of CMT1A diagnosis, based on presence of the 17p11.2 duplication; 3. CMT Neuropathy Score CMTNS between 1 excluding the electrophysiological component and 35 including the electrophysiological component Shy ; 4. Age 18-70 years; 5. Ability to accomplish the primary outcome measures; 6. Women of child-bearing age only if they declare not to be pregnant or breast feeding at the inclusion into the study and to avoid becoming pregnant during the study; 7. Signed informed patient consent. |
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E.4 | Principal exclusion criteria |
1. Clinical or echographic diagnosis of nephrolithiasis; 2. Positive history of recurrent renal colics; 3. One or more episodes of renal colic during the 6 months prior to the enrolment; 4. Deficit of Glucose-6P-Dehydrogenase G6PD ; 5. Acquired or hereditary haemochromatosis; thalassemia major; syderoblastic anaemia; 6. Treatment with ramified chain amino-acids or other drugs considered as potential therapeutic agents for CMT1A during the three months prior to screening; 7. AA consumption in the three months prior to screening; 8. Other causes of neuropathy e.g. diabetes, monoclonal gammopathy, neoplasms, B12 deficiency, HCV-related liver disease ; 9. Presence of other neurological disorders such as multiple sclerosis, cerebrovascular diseases, movement disorders , or major comorbidities e.g., definite cognitive impairment, psychiatric disease, heart or lung failure, orthopaedic or rheumatological disorders ; 10. Limb surgery during in the six months prior to screening or planned before final assessment . |
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E.5 End points |
E.5.1 | Primary end point(s) |
The predefined primary outcome criterion is the effect of AA treatment on the CMTNS Shy . |
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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 | Information not present in EudraCT |
E.6.9 | Dose response | No |
E.6.10 | Pharmacogenetic | Information not present in EudraCT |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | Information not present in EudraCT |
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 | Yes |
E.8.1.1 | Randomised | Yes |
E.8.1.2 | Open | No |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | Yes |
E.8.1.5 | Parallel group | Yes |
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 | Yes |
E.8.2.3 | Other | No |
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.8.5 | 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 | Information not present in EudraCT |
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 | 2 |
E.8.9.1 | In the Member State concerned months | 10 |
E.8.9.1 | In the Member State concerned days | |
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 | 10 |