Clinical and Genetic Examinations of Dilated Cardiomyopathy

NCT02148926 | Completed

• 1 other identifier: DCM-011213-28037
• Study Type: observational
• Target: 554
• Locations: 1 country
• Sites: 1

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.

Conditions

Dilated Cardiomyopathy

Outcome Measures

Primary Outcomes (1)

• Genetics

  Difference in the genetics in the transplanted vs the non-transplanted group

  3 years

Secondary Outcomes (1)

• Global longitudinal strain

  3 years

Eligibility Criteria

• Age: 1 Day - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Families in Denmark with history of dilated cardiomyopathy. Patients mainly from Funen and Jutland.

You may qualify if:

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

You may not qualify if:

• Death
• Not available for genetic testing and clinical examinations

Sponsors & Collaborators

• University of Southern Denmark: lead
• Odense University Hospital: collaborator
• Aarhus University Hospital: collaborator

Study Sites (1)

Odense University Hospital

Odense, 5000, Denmark

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA for genetic testing

MeSH Terms

Conditions

Cardiomyopathy, Dilated

Condition Hierarchy (Ancestors)

Cardiomegaly; Heart Diseases; Cardiovascular Diseases; Cardiomyopathies; Laminopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Jens Mogensen, Professor

  Odense University Hospital

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, Phd. student

Study Record Dates

• First Submitted: May 23, 2014
• First Posted: May 29, 2014
• Study Start: February 1, 2014
• Primary Completion: May 1, 2018
• Study Completion: June 1, 2018
• Last Updated: September 25, 2023

Record last verified: 2023-09

Locations

DK (1)