E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Portadores sintomaticos de una mutación en el gen disferlina.
Symptomatic carriers of a mutation in the dysferlin gene |
|
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 9.1 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10028356 |
E.1.2 | Term | Muscular dystrophy |
|
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 evaluate if there is clinical or analytical response to treatment with calcifediol (vtamine D) in symptomatic carriers of a mutation in the dysferlin gene |
|
E.2.2 | Secondary objectives of the trial |
To determine if there is an increase of dysferlin expresion levels in peripheral blood monocytes of symptomatic carriers of a mutation in the dysferlin gene treated with calcifediol |
|
E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
1. Men and women of age compressed between 18 and 60 years old 2. Demonstartion of the state of carrier of a mutation in the dysferlin gene and demostration of reduction of dysferlin protein expression in monocytes 2. Symptomatic carriers of a mutation in the dysferlin gene demonstrated by any of the following:
a. Hyperckemia b. Weakness c. Modification of the normal structure of gastrocnemius demonstrated by magnetic resonance imaging |
|
E.4 | Principal exclusion criteria |
1. Patients currently treated with calcidefiol 2. Pregnancy 3. Patients affected of renal failure 4. Patients affected of hypercalcemia 5. Patients who cannot follow the physical tests of the study 6. Patients with allergy to calcifediol 7. Patients who are or have been included in any other Medical study within a minimal period of 30 days
|
|
E.5 End points |
E.5.1 | Primary end point(s) |
1. Evaluate the clinical and analytical response in symptomatic carriers of a mutation in the dysferlin gene treated with calcifediol
This will be performed using:
1. Physical tests (QMA) 2. Quality of life scales 3. Magnetic resonance imaging of gastrocnemius 4. Reduction of Ck levels in peripheral blood 5. Increased expression of dysferlin protein in peripheral blood monocytes. |
|
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 | 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 | 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 | 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) | 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
| 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 | 3 |
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 | Yes |
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
| |
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 |