E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Healthy volunteers. Later the protocol will be applied to Facioscapular humeral dystrophy and/or other muscular dystrophies in general. |
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MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 8.1 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10011328 |
E.1.2 | Term | Creatine |
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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 goal of the present study is to determine if magnetic resonance spectra of different skeletal muscles in FSH patients show abnormalities. These metabolite values can be used as a biomarker for the severity of the disease in specific skeletal muscles and possbily in the future for the evaluation of therapies. Furthermore, creatine uptake and turnover will be studied in different skeletal muscles of healthy volunteers. The values for uptake and turnover of creatine in healthy volunteers can provide a basis for a comparable study in FSH patients, to determine if creatine supplementation would be a tentative therapy. |
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E.2.2 | Secondary objectives of the trial |
Normal values for metabolites detectable with 1H and 31P MRS will be determined in healthy volunteers, as well as their reproducibility. |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
FSHD patients: clinically affected patients with a genetically confirmed diagnosis, moderate severity of the disease, informed consent. Heatlhy volunteers: informed consent
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E.4 | Principal exclusion criteria |
All subjects: kidney or liverproblems (present or past), diabetes, wheelchair bound. MR contra-indication: pacemaker, cerebral clips, metal splinters, neuro stimulator, cardiac arythmias, epilepsy, severe claustrofobia, pregnancy. Healthy volunteers: skeletal muscle problems or disease |
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E.5 End points |
E.5.1 | Primary end point(s) |
MR measurement: feeling of strong discomfort due to claustrofobia or other reasons, unwillingness to pursue the measurement. Creatine supplementation protocol: any of the very rare side effects of creatine supplementation (muscle cramps or strains, gastrointestinal distress). |
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E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | Yes |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | Yes |
E.6.4 | Safety | No |
E.6.5 | Efficacy | No |
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 |
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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) | Yes |
E.7.3 | Therapeutic confirmatory (Phase III) | Information not present in EudraCT |
E.7.4 | Therapeutic use (Phase IV) | Information not present in EudraCT |
E.8 Design of the trial |
E.8.1 | Controlled | No |
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 | No |
E.8.1.5 | Parallel group | No |
E.8.1.6 | Cross over | No |
E.8.1.7 | Other | Information not present in EudraCT |
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 | Yes |
E.8.2.3.1 | Comparator description |
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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 | 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
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MR measurements of 15 FSHD patients and 20 volunteers. |
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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 | 1 |
E.8.9.1 | In the Member State concerned months | 6 |
E.8.9.1 | In the Member State concerned days | 0 |