Inflammatory/Familial Dilated Cardiomyopathy: Is There a Link to Autoimmune Diseases? TP9a (Ikarius)

March 22, 2019 updated by: Sabine Pankuweit, Philipps University Marburg Medical Center

Inflammatory/Familial Dilated Cardiomyopathy: Is There a Link to Autoimmune Diseases? TP9a of the KNHI Associated to the DZHK

In a hitherto ill-defined proportion of patients with inflammatory/familial cardiomyopathy, the phenotype dilative cardiomyopathy (DCM) is assumed to be the endstage of a multifactorial etiopathogenetic pathophysiology. Precipitating factors include enhanced autoimmunity, predisposition for viral infections, environmental factors in addition to a specific 'genetic background' of the individual patient. It is unresolved, whether the susceptibility to immunologically mediated myocardial damage reflects the presence of genetic risk factors shared by other autoimmune diseases, or is cardio-specific with individual predisposing factors. Aims of the project are the search for a genetic link or oredisposition to autoimmune diseases in patients with familial / inflammatory DCM.

Study Overview

Status

Completed

Conditions

Detailed Description

Epidemiological investigations in patients with autoimmune diseases have shown that in addition to a specific genetic alteration secondary inducing factors are responsible for the onset of the disease, which may lead to different phenotypes of autoimmune diseases in a single family. The working hypothesis has been derived that inflammatory DCM is the endstage of an autoimmune cardiac disease that goes along with the activation of succeptibility genes, which are common to other autoimmune diseases.

Original aims of the project were:

  • inclusion of patients with dilated cardiomyopathy (ejection fraction <45%, left ventricular enddiastolic diameter > 56mm) and in addition
  • the inclusion of all relevant data regarding a possible familial, infectious or autoimmune etiology of the disease. A questionnaire was added to the CRFs, in order to ascertain data regarding a possible familial history for each patient not only for cardiac diseases, but also for autoimmune disorders. A pedigree of all patients was drawn. Data regarding a possible infectious or inflammatory etiology of the disease are available by investigation of the endomyocardial biopsy and peripheral blood. All data were included in the CRF. Derived from the data base, the biopsy and serum bank, further aims of the project are the search for a genetic link or genetic predisposition for autoimmune diseases in patients with DCM, especially inflammatory diseases.

To reach these aims, peripheral blood of all included patients was sent to the biomaterial bank in Berlin. DNA extracted from peripheral blood was investigated for the detection of genetic abnormalities in the genes for structural proteins, which are known to be associated with DCM. In addition, screening was done for several candidate genes in endomyocardial biopsies of patients with DCM using microchip technology and the investigation for polymorphisms in the HLA class II DQ locus in the patient cohort. Data if this Investigation were correlated with clinical outcome of the patients, who clinically were followed in total for 10 years. Right now the 10 year follow-up is ongoing.

Study Type

Observational

Enrollment (Actual)

320

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

16 years to 68 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Patients with non ischemic DCM: All patients underwent a careful history and clinical examination aswell as laboratory studies and echocardiographic assessment with 2-dimensional echocardiography. The diagnosis of DCM was made according to criteria of the position statement from the European Society of Cardiology working group on myocardial and pericardial diseases

Description

Inclusion Criteria:

Patients between 18 and 70 years of age were included if they had a left ventricular ejection fraction of 45% and a left ventricular end-diastolic diameter >56 mm estimated by echocardiography with no evidence of significant valve disease.

Exclusion Criteria:

Coronary artery disease (>50% diameter luminal stenosis in one or more epicardial vessels) was excluded in all patients by means of coronary angiography. Moreover, patients were excluded from the study if they demonstrated one or more of the following parameters: peripartum cardiomyopathy, history of myocardial infarction, severe systemic hypertension, alcohol abuse, and drug dependency.

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

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Genotype - phenotype correlation in patients with DCM of different etiology
Time Frame: 10-year clinical Follow-up will be performed from 12/2016 until June 2018
Correlation of different clinical and genetic marker with outcome (ejection fraction, left ventricular Diameter, composite of all-cause mortality or heart Transplantation
10-year clinical Follow-up will be performed from 12/2016 until June 2018

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Philipps University Marburg Medical Center

Collaborators

Deutsches Zentrum für Herz-Kreislauf-Forschung (DZHK)
Competence Network Heart Failure

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

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 (Actual)

June 1, 2016

Primary Completion (Actual)

December 31, 2018

Study Completion (Actual)

December 31, 2018

Study Registration Dates

First Submitted

March 14, 2017

First Submitted That Met QC Criteria

March 20, 2017

First Posted (Actual)

March 24, 2017

Study Record Updates

Last Update Posted (Actual)

March 25, 2019

Last Update Submitted That Met QC Criteria

March 22, 2019

Last Verified

March 1, 2019

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 01 GI 0205 KKS 1108

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Yes

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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