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Diagnostic Value of the Electrocardiogram in Fabry Disease (DEFY)

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: NCT03362645
Recruitment Status : Unknown
Verified November 2017 by University Hospital, Caen.
Recruitment status was:  Not yet recruiting
First Posted : December 5, 2017
Last Update Posted : December 5, 2017
Information provided by (Responsible Party):
University Hospital, Caen

Brief Summary:
Cardiac complications occur in 78% of patients with Fabry disease and are mainly characterized by a high frequency of left ventricular hypertrophy resulting from an accumulation of GL3 in cardiomyocytes. Apart from family screening, left ventricular hypertrophy is an important factor in the diagnosis of Fabry disease. This left ventricular hypertrophy is more often concentric and homogeneous, but it can also be asymmetric and mimic the patterns seen in so-called familial hypertrophic cardiomyopathies caused by mutations in the sarcomere protein genes. Electrocardiogram has been suggested as a screening tool for Fabry disease. Analysis of the PQ interval would be of interest. An algorithm has even been proposed to differentiate Fabry disease from amyloidosis with excellent sensitivity and specificity. The only criterion of left ventricular hypertrophy used in all studies is the Sokolov-Lyon index, but this index has many limitations and does not appear to be discriminatory for Fabry disease. Other validated criteria for left ventricular hypertrophy, such as the Cornell, Lewis, Gubner index or the Romhilt-Estes point score, have never been tested in Fabry disease. The primary objective of our study is to evaluate the diagnostic value of different electrocardiographic scores of left ventricular hypertrophy in Fabry disease.

Condition or disease

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Case-Control
Time Perspective: Retrospective
Official Title: Diagnostic Value of the Electrocardiogram in Fabry Disease
Estimated Study Start Date : March 2018
Estimated Primary Completion Date : March 2019
Estimated Study Completion Date : October 2019

Resource links provided by the National Library of Medicine

Fabry cardiomyopathy
Hypertrophic cardiomyopathy

Primary Outcome Measures :
  1. Analysis of the PQ interval with a new algorithm [ Time Frame: baseline ]
    Determine whether electrocardiographic criteria of left ventricular hypertrophy allow to distinguish between Fabry disease and sarcomeric hypertrophic cardiomyopathy

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

Patients aged > 18 years, with genetically confirmed Fabry disease complicated by LVH.

Patients aged > 18 years, with sarcomeric hypertrophic cardiomyopathy.


Inclusion Criteria:

  • Patients aged > 18 years, with genetically confirmed Fabry disease complicated by LVH.
  • Patients aged > 18 years, with sarcomeric hypertrophic cardiomyopathy.

Exclusion Criteria:

  • Patients aged < 18 years. Sarcomeric hypertrophic cardiomyopathy for which Fabry disease has not been excluded by alpha-galactosidase A assay (in men) and genetic analysis (GLA gene mutation) in women.
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Responsible Party: University Hospital, Caen Identifier: NCT03362645    
Other Study ID Numbers: 16-005
First Posted: December 5, 2017    Key Record Dates
Last Update Posted: December 5, 2017
Last Verified: November 2017

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Fabry Disease
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