Diagnostic Value of the Electrocardiogram in Fabry Disease

NCT03362645 | Unknown

• 1 other identifier: 16-005
• Study Type: observational
• Target: 100
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Fabry

Outcome Measures

Primary Outcomes (1)

• Analysis of the PQ interval with a new algorithm

  Determine whether electrocardiographic criteria of left ventricular hypertrophy allow to distinguish between Fabry disease and sarcomeric hypertrophic cardiomyopathy

  baseline

Study Arms (2)

Fabry cardiomyopathy

Hypertrophic cardiomyopathy

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University Hospital, Caen: lead

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 29, 2016
• First Posted: December 5, 2017
• Study Start: March 1, 2018
• Primary Completion: March 1, 2019
• Study Completion: October 1, 2019
• Last Updated: December 5, 2017

Record last verified: 2017-11