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Clinical and Genetic Examinations of Dilated Cardiomyopathy

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02148926
Recruitment Status : Recruiting
First Posted : May 29, 2014
Last Update Posted : March 13, 2018
Odense University Hospital
Aarhus University Hospital
Information provided by (Responsible Party):
Thomas Morris Hey, University of Southern Denmark

Brief Summary:

This study is a descriptive study to investigate clinical and genetic features of dilated cardiomyopathy (DCM) patients and their relatives. 109 probands with DCM have been clinically characterized with clinical examinations including ECG and echocardiography, and furthermore they have had next generation sequencing (NGS) of 42 known DCM genes, and 34 candidate genes. The probands were consequtively included in the study and 59 had undergone heart transplantation (HTx) upon inclusion. of these patients underwent heart transplantation. The data from NGS is validated by Sanger sequencing. In this study we will examine the relatives to the 109 index patients by genetic and clinical cascade screening including advanced echocardiography including 3D volume measurements and speckle-tracking (GLS). Genetic investigations of relatives will be performed if a disease-associated mutation is identifed in the proband. Approximately 480 clinical examinations will be performed this way to be able to:

1a. Investigate the frequency of familial types of DCM

1b. To investigate the yield of genetic and clinical cascade screening

2. To describe genotype phenotype correlations

3. To investigate if there are subtle changes in the heart in genopositive individuals which do not meet the conventional diagnostic criteria evaluated by advanced echocardiography.

Condition or disease
Dilated Cardiomyopathy

Show Show detailed description

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 554 participants
Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Clinical and Genetic Examinations of Dilated Cardiomyopathy
Actual Study Start Date : February 2014
Estimated Primary Completion Date : May 2018
Estimated Study Completion Date : June 2018

Primary Outcome Measures :
  1. Genetics [ Time Frame: 3 years ]
    Difference in the genetics in the transplanted vs the non-transplanted group

Secondary Outcome Measures :
  1. Global longitudinal strain [ Time Frame: 3 years ]
    GLS in genopositive patients with no expression of the disease according to guidelines precipitating reduction in ejection fraction. Assesing differences in GLS in the genopositive vs the genonegative group at baseline in the individuals with no signs of DCM.

Biospecimen Retention:   Samples With DNA
DNA for genetic testing

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Families in Denmark with history of dilated cardiomyopathy. Patients mainly from Funen and Jutland.

Inclusion Criteria:

  • Related to one of the index patients
  • Available for genetic testing and clinical examinations

Exclusion Criteria:

  • Death
  • Not available for genetic testing and clinical examinations

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 identifier (NCT number): NCT02148926

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Contact: Thomas Hey, MD 004524469228
Contact: Jens Mogensen, Professor

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Odense University Hospital Recruiting
Odense, Denmark, 5000
Contact: Thomas M. Hey, MD    004524469228   
Contact: Jens Mogensen, Professor         
Principal Investigator: Thomas M. Hey, MD         
Sub-Investigator: Jens Mogensen, Professor         
Sponsors and Collaborators
University of Southern Denmark
Odense University Hospital
Aarhus University Hospital
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Study Director: Jens Mogensen, Professor Odense University Hospital

Additional Information:

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Responsible Party: Thomas Morris Hey, MD, Phd. student, University of Southern Denmark Identifier: NCT02148926    
Other Study ID Numbers: DCM-011213-28037
First Posted: May 29, 2014    Key Record Dates
Last Update Posted: March 13, 2018
Last Verified: March 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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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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Cardiomyopathy, Dilated
Heart Diseases
Cardiovascular Diseases