Portadores sintomaticos de una mutación en el gen disferlina. Symptomatic carriers of a mutation in the dysferlin gene MedDRA version: 9.1 Level: LLT Classification code 10028356 Term: Muscular dystrophy
Conditions
Interventions
Trade Name: Hidroferol®
Product Name: Calcifediol
Pharmaceutical Form: Oral liquid
INN or Proposed INN: CALCIFEDIOL
CAS Number: 19356-17-3
Other descriptive name: HIDROFEROL
Concentration unit: mg mil
Sponsors
Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Eligibility
Sex/Gender
All
Inclusion criteria
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 Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: 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;Secondary Objective: 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;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. | — |
Countries
Spain
Outcome results
None listed