Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers
FAMY
1 other identifier
observational
120
0 countries
N/A
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Oct 2011
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
September 26, 2011
CompletedFirst Posted
Study publicly available on registry
September 28, 2011
CompletedStudy Start
First participant enrolled
October 1, 2011
CompletedPrimary Completion
Last participant's last visit for primary outcome
February 1, 2013
CompletedStudy Completion
Last participant's last visit for all outcomes
April 1, 2013
CompletedSeptember 28, 2011
September 1, 2011
1.3 years
September 26, 2011
September 27, 2011
Conditions
Keywords
Eligibility Criteria
This task will be performed at the monographic hypertrophic cardiomyopathy clinic. The investigators intention is to include 12 families for testing the biomarkers elevation correlation with the presence of disease. The investigators plan to achive the inclusion of 30 families with Fabry diagnosed probands, including up to 130 relatives for verification and the polimorfisms' study.
You may qualify if:
- families with Fabry diagnosed probands, including up to 80 relatives.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Francisco Marín Ortuñolead
- Hospital Universitario San Juan de Alicantecollaborator
- Hospital General Universitario Elchecollaborator
Biospecimen
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).
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR INVESTIGATOR
- PI Title
- Cardiologist
Study Record Dates
First Submitted
September 26, 2011
First Posted
September 28, 2011
Study Start
October 1, 2011
Primary Completion
February 1, 2013
Study Completion
April 1, 2013
Last Updated
September 28, 2011
Record last verified: 2011-09