- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03362645
Diagnostic Value of the Electrocardiogram in Fabry Disease (DEFY)
December 4, 2017 updated by: University Hospital, Caen
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.
Study Overview
Status
Unknown
Conditions
Study Type
Observational
Enrollment (Anticipated)
100
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
18 years and older (Adult, Older Adult)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
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.
Description
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.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
---|
Fabry cardiomyopathy
|
Hypertrophic cardiomyopathy
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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
|
baseline
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Anticipated)
March 1, 2018
Primary Completion (Anticipated)
March 1, 2019
Study Completion (Anticipated)
October 1, 2019
Study Registration Dates
First Submitted
August 29, 2016
First Submitted That Met QC Criteria
December 4, 2017
First Posted (Actual)
December 5, 2017
Study Record Updates
Last Update Posted (Actual)
December 5, 2017
Last Update Submitted That Met QC Criteria
December 4, 2017
Last Verified
November 1, 2017
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Cardiovascular Diseases
- Vascular Diseases
- Metabolic Diseases
- Cerebrovascular Disorders
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Lipid Metabolism Disorders
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Sphingolipidoses
- Lysosomal Storage Diseases, Nervous System
- Cerebral Small Vessel Diseases
- Lipidoses
- Lipid Metabolism, Inborn Errors
- Fabry Disease
Other Study ID Numbers
- 16-005
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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