Estudio multicéntrico para comprobar la respuesta clínico-analítica de pacientes portadores sintomáticos de Disferlinopatía al tratamiento con CalcifediolMulticentric study to assess the clinical and analytical response to calcifediol in symptomatic carriers of dysferlin myopathy

Active, not recruiting

• Conditions: Portadores sintomaticos de una mutación en el gen disferlina.Symptomatic carriers of a mutation in the dysferlin gene; MedDRA version: 9.1Level: LLTClassification code 10028356Term: Muscular dystrophy

• Registration Number: EUCTR2007-005808-41-ES
• Lead Sponsor: Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2008-01-25
• Last Update Posted: 19 March 2012

Recruitment & Eligibility

• Status: Authorised-recruitment may be ongoing or finished
• Sex: All
• Target Recruitment: Not specified

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

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

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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<br><br> This will be performed using: <br><br> 1. Physical tests (QMA)<br> 2. Quality of life scales<br> 3. Magnetic resonance imaging of gastrocnemius<br> 4. Reduction of Ck levels in peripheral blood<br> 5. Increased expression of dysferlin protein in peripheral blood monocytes.