Clinical Trial: Inflammatory/Familial Dilated Cardiomyopathy: Is There a Link to Autoimmune Diseases? TP9a

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational

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

Brief Summary: 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.

Detailed Summary:

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 add
Sponsor: Philipps University Marburg Medical Center

Current Primary Outcome: 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


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Philipps University Marburg Medical Center

Dates:
Date Received: March 14, 2017
Date Started: June 2016
Date Completion: June 2018
Last Updated: March 20, 2017
Last Verified: March 2017