Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers (FAMY)
The recruitment status of this study is unknown because the information has not been verified recently.
Verified September 2011 by Hospital Universitario Virgen de la Arrixaca.
Recruitment status was Not yet recruiting
Hospital Universitario San Juan de Alicante
Hospital General Universitario Elche
Information provided by (Responsible Party):
Francisco Marín Ortuño, Hospital Universitario Virgen de la Arrixaca
First received: September 26, 2011
Last updated: September 27, 2011
Last verified: September 2011
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
||Observational Model: Cohort
Time Perspective: Prospective
||Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers
Biospecimen Retention: Samples With DNA
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).
| Estimated Enrollment:
| Study Start Date:
| Estimated Study Completion Date:
| Estimated Primary Completion Date:
||February 2013 (Final data collection date for primary outcome measure)
|Genders Eligible for Study:
|Accepts Healthy Volunteers:
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.
- 20 families with Fabry diagnosed probands, including up to 80 relatives.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.
No Contacts or Locations Provided
No publications provided
||Francisco Marín Ortuño, Cardiologist, Hospital Universitario Virgen de la Arrixaca
History of Changes
|Other Study ID Numbers:
|Study First Received:
||September 26, 2011
||September 27, 2011
||Spain: IRB Hospital Virgen de la Arrixaca
Keywords provided by Hospital Universitario Virgen de la Arrixaca:
Additional relevant MeSH terms:
ClinicalTrials.gov processed this record on July 24, 2014
Hypertrophy, Right Ventricular
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lipid Metabolism Disorders
Pathological Conditions, Anatomical