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Evaluation of HEArt invoLvement in Patients With FABRY Disease (HEAL-FABRY)

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ClinicalTrials.gov Identifier: NCT03362164
Recruitment Status : Recruiting
First Posted : December 5, 2017
Last Update Posted : December 5, 2017
Sponsor:
Collaborators:
Information provided by (Responsible Party):

Study Description
Brief Summary:
This study evaluates predictors for the incidence of arrhythmias and sudden cardiac death as well as terminal heart failure in patients with Fabry disease.

Condition or disease
Rare Diseases Fabry Disease Fabry Disease, Cardiac Variant Hypertrophic Cardiomyopathy

Detailed Description:

Fabry disease is a rare disease and part of the group of lysosomal storage disorders. Natural history of Fabry disease has proven poor survival to ages >50 years outlining the importance to evaluate cardiac symptoms and outcomes of patients with Fabry disease.

This study is a prospective cohort study and observes patients since 2001. Through this long-term experience and the relative high number of patients this study is suggested to help estimating the risk of cardiac arrhythmias and sudden cardiac death (SCD) as well as death or heart transplantation due to terminal heart failure.

All patients in treatment in the Fabry Center Wuerzburg (FAZiT) are included in this study if informed consent is provided.


Study Design

Study Type : Observational
Estimated Enrollment : 650 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prospective Monocentric Cohort Study to Evaluate Predictors for Heart Failure and Sudden Cardiac Death in Patients With Fabry Disease
Actual Study Start Date : January 2001
Estimated Primary Completion Date : March 2032
Estimated Study Completion Date : March 2032


Groups and Cohorts


Outcome Measures

Primary Outcome Measures :
  1. Cardiac death [ Time Frame: From date of inclusion until the date of first documented event, up to the year 2032 ]
    Patients sustaining cardiac death


Secondary Outcome Measures :
  1. Heart transplantation [ Time Frame: From date of inclusion until the date of first documented event, up to the year 2032 ]
    On the basis of severe cardiac damage heart transplantation is needed

  2. Malign Arrhythmias [ Time Frame: From date of inclusion until the date of death, up to the year 2032 ]
    Patients suffering any malign arrhythmias


Biospecimen Retention:   Samples With DNA
ECG, Holter ECG, Echo, Cardiac MRI, Endomyocardial Biopsy, Kidney Biopsy, Cranial MRI, Skin Biopsy, EDTA Blood, Serum, Plasma, Urine

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
The study population includes every patient with Fabry disease who is seen in the FAZiT Wuerzburg. No limitations are made.
Criteria

Inclusion Criteria:

  • Fabry disease (genetically confirmed)
  • Signed informed consent
  • 18 years and older

Exclusion Criteria:

  • No informed consent
  • Withdrawal of informed consent
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03362164


Contacts
Contact: Peter Nordbeck, MD, PhD 004993120139181 nordbeck_p@ukw.de
Contact: Jonas Muentze, MD 004993120139958 muentze_j@ukw.de

Locations
Germany
Wuerzburg University Hospital Recruiting
Würzburg, Bayern, Germany, 97080
Contact: Irina Turkin    004993120139714    turkin_i@ukw.de   
Sponsors and Collaborators
Wuerzburg University Hospital
Competence Network Heart Failure
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
St George's, University of London
Investigators
Principal Investigator: Peter Nordbeck, MD, PhD Wuerzburg University Hospital
More Information

Publications:

Responsible Party: PD Dr. Peter Nordbeck, Head Consultant Cardiology and Chief of Electrophysiology, Wuerzburg University Hospital
ClinicalTrials.gov Identifier: NCT03362164     History of Changes
Other Study ID Numbers: FAZiT-2001
First Posted: December 5, 2017    Key Record Dates
Last Update Posted: December 5, 2017
Last Verified: November 2017

Keywords provided by PD Dr. Peter Nordbeck, Wuerzburg University Hospital:
Fabry
Fibrosis
Dialysis
Stroke
Chronic kidney disease

Additional relevant MeSH terms:
Cardiomyopathies
Hypertrophy
Rare Diseases
Fabry Disease
Cardiomyopathy, Hypertrophic
Heart Diseases
Cardiovascular Diseases
Pathological Conditions, Anatomical
Disease Attributes
Pathologic Processes
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
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis