MedTrace Logo

Individualized Early Risk Assessment for Heart Diseases

NCT02417311 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 80

Last updated 2019-04-29

No results posted yet for this study

Summary

Heart failure (HF) is the common end-stage of different medical conditions. It is the only growing cardiovascular disease and its prognosis remains worse than that of many malignancies. The lack of evidence-based treatment for patients with diastolic HF (HFpEF) exemplifies that the current "one for all" therapy has to be advanced by an individualized approach. Inherited cardiomyopathies can serve as paradigmatic examples of different HF pathogenesis. Both gain- and loss-of-function mutations of the same gene cause disease, calling for disease-specific agonism or antagonism of this gene´s function. However, mutations alone do not predict the severity of cardiomyopathies nor therapy, because their impact on cardiac myocyte function is modified by numerous factors, including the genetic context. Today, patient-specific cardiac myocytes can be evaluated by the induced pluripotent stem cell (hiPSC) technology. Yet, unfolding the true potential of this technology requires robust, quantitative, high content assays. The researchers' recently developed method to generate 3D-engineered heart tissue (EHT) from hiPSC provides an automated, high content analysis of heart muscle function and the response to stressors in the dish. The aim of this project is to make the technology a clinically applicable test. Major steps are (i) in depths clinical phenotyping and genotyping of patients with cardiomyopathies or HFpEF, (ii) follow-up of the clinical course, (iii) generation of hiPSC lines (40 patients, 40 healthy controls), and (iv) quantitative assessment of hiPSC-EHT function under basal conditions and in response to pro-arrhythmic or cardio-active drugs and chronic afterload enhancement. The product of this study is an SOP-based assay with standard values for hiPSC-EHT function/stress responses from healthy volunteers and patients with different heart diseases. The project could change clinical practice and be a step towards individualized risk prediction and therapy of HF.

Conditions

  • Cardiomyopathy, Hypertrophic
  • Cardiomyopathy, Dilated

Interventions

OTHER

Skin biopsy, genotyping and disease phenotyping

Major steps of the project are (i) in depths clinical phenotyping and follow-up of the clinical course of probands (ii) genotyping of candidate genes involved in heart disease development and (iii) in vitro functional tests of engineered heart tissue (EHT), miniature beating heart muscles. These EHTs are generated from hiPSC (human induced pluripotent stem cells) lines derived from skin biopsies of each participant.

Sponsors & Collaborators

  • Universitätsklinikum Hamburg-Eppendorf

    lead OTHER

Principal Investigators

  • Thomas Eschenhagen, Prof.Dr.med. · Universitätsklinikum Hamburg-Eppendorf

Eligibility

Min Age
18 Years
Max Age
60 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2014-06-30
Primary Completion
2019-06-30
Completion
2019-06-30

Countries

  • Germany

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02417311 on ClinicalTrials.gov