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Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers (FAMY)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01442350
Recruitment Status : Unknown
Verified September 2011 by Francisco Marín Ortuño, Hospital Universitario Virgen de la Arrixaca.
Recruitment status was:  Not yet recruiting
First Posted : September 28, 2011
Last Update Posted : September 28, 2011
Hospital Universitario San Juan de Alicante
Hospital General Universitario Elche
Information provided by (Responsible Party):
Francisco Marín Ortuño, Hospital Universitario Virgen de la Arrixaca

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.

Condition or disease
Fabry Disease, Cardiac Variant Right Ventricular Hypertrophy

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Study Type : Observational
Estimated Enrollment : 120 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers
Study Start Date : October 2011
Estimated Primary Completion Date : February 2013
Estimated Study Completion Date : April 2013

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).

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
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.

Inclusion Criteria:

  • 20 families with Fabry diagnosed probands, including up to 80 relatives.
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Responsible Party: Francisco Marín Ortuño, Cardiologist, Hospital Universitario Virgen de la Arrixaca Identifier: NCT01442350    
Other Study ID Numbers: Fabry-Myocardial
First Posted: September 28, 2011    Key Record Dates
Last Update Posted: September 28, 2011
Last Verified: September 2011
Keywords provided by Francisco Marín Ortuño, Hospital Universitario Virgen de la Arrixaca:
Fabry disease
annexin 5
Additional relevant MeSH terms:
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Fabry Disease
Hypertrophy, Right Ventricular
Pathological Conditions, Anatomical
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Heart Diseases