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

• Register: EUCTR
• Last refreshed on: 19 March 2012
• Main ID: EUCTR2007-005808-41-ES
• Date of registration: 25/01/2008
• Prospective Registration: Yes
• Primary sponsor: Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
• Public title: Estudio multicéntrico para comprobar la respuesta clínico-analítica de pacientes portadores sintomáticos de Disferlinopatía al tratamiento con Calcifediol Multicentric study to assess the clinical and analytical response to calcifediol in symptomatic carriers of dysferlin myopathy
• Scientific title: Estudio multicéntrico para comprobar la respuesta clínico-analítica de pacientes portadores sintomáticos de Disferlinopatía al tratamiento con Calcifediol Multicentric study to assess the clinical and analytical response to calcifediol in symptomatic carriers of dysferlin myopathy
• Date of first enrolment: 25/02/2008
• Recruitment status: Authorised-recruitment may be ongoing or finished
• URL: https://www.clinicaltrialsregister.eu/ctr-search/search?query=eudract_number:2007-005808-41
• Study type: Interventional clinical trial of medicinal product
• Study design: Controlled: no Randomised: no Open: no Single blind: no Double blind: no Parallel group: no Cross over: no Other: no If controlled, specify comparator, Other Medicinial Product: no Placebo: no Other: no

Countries of recruitment

Spain

Key inclusion & exclusion 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:
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



Age minimum:
Age maximum:
Gender:
Female: yes
Male: yes

Health Condition(s) or Problem(s) studied

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

Intervention(s)

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 milligram(s)
Concentration type: equal
Concentration number: 0,266-

Primary Outcome(s)

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.

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

Secondary ID(s)

EC 07/90601