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
Sponsor:
Collaborators:
Hospital Universitario San Juan de Alicante
Hospital General Universitario Elche
Information provided by (Responsible Party):
Francisco Marín Ortuño, Hospital Universitario Virgen de la Arrixaca
ClinicalTrials.gov Identifier:
NCT01442350
First received: September 26, 2011
Last updated: September 27, 2011
Last verified: September 2011
  Purpose

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
Fabry Disease, Cardiac Variant
Right Ventricular Hypertrophy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers

Resource links provided by NLM:


Further study details as provided by Hospital Universitario Virgen de la Arrixaca:

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: 120
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)
  Show Detailed Description

  Eligibility

Genders Eligible for Study:   Both
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.

Criteria

Inclusion Criteria:

  • 20 families with Fabry diagnosed probands, including up to 80 relatives.
  Contacts and Locations
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
  More Information

No publications provided

Responsible Party: Francisco Marín Ortuño, Cardiologist, Hospital Universitario Virgen de la Arrixaca
ClinicalTrials.gov Identifier: NCT01442350     History of Changes
Other Study ID Numbers: Fabry-Myocardial
Study First Received: September 26, 2011
Last Updated: September 27, 2011
Health Authority: Spain: IRB Hospital Virgen de la Arrixaca

Keywords provided by Hospital Universitario Virgen de la Arrixaca:
Fabry disease
annexin 5
miosin
sarcoma
alfa-galactosidase
fibrosis
apoptosis
biomarkers
NT-proBNP

Additional relevant MeSH terms:
Fabry Disease
Heart Diseases
Hypertrophy
Hypertrophy, Right Ventricular
Sphingolipidoses
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
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Pathological Conditions, Anatomical
Cardiomegaly

ClinicalTrials.gov processed this record on August 19, 2014