Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers (FAMY)
Recruitment status was Not yet recruiting
The cardiac variant of the Fabry disease is a rare cardiomyopathy affecting 1/50000 individuals in general population. It is generally diagnosed in advanced stages of the disease, because it presents clinical features very similar to the hypertrophic cardiomyopathy ones, making difficult the correct diagnosis. In Fabry disease there is a remodeling process of the myocardial interstitium and apoptosis of myocytes which leads to fibrosis development and later systolic dysfunction. The investigators propose to evaluate the utility of several biomarkers in the diagnosis of this cardiomyopathy, to facilitate the early diagnosis, which is clue to establish early enzyme replacement therapy or intensify the patients' follow up. In order to achieve this objective, the investigators will analyze markers of endothelial dysfunction, fibrosis and apoptosis in peripheral blood samples of patients carrying the mutation but without clinical manifestations and the investigators will compare their levels with dose obtained from two different control groups: diagnosed patients presenting clinical manifestations or index cases and healthy controls without carrying the mutation.
Fabry Disease, Cardiac Variant
Right Ventricular Hypertrophy
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers|
Genotyping of relatives of mutation-known Fabry probands: in order to know which are the relatives carrying mutations. (The investigators have already started this task).
|Study Start Date:||October 2011|
|Estimated Study Completion Date:||April 2013|
|Estimated Primary Completion Date:||February 2013 (Final data collection date for primary outcome measure)|
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