Therapeutic area: Muscular Disorders, Cardiomyopathy
Disease: Dilated Cardio Myopathy
Monogenic inroad: TITIN
Cellular Model: Patient-derived cardiomyocytes (ventricular)
Project Origin: Technische Universität München, Klinikum rechts der Isar, Prof. Karl-Ludwig Laugwitz & University of Göttingen, Prof. Wolfram Zimmermann
Medical need: With a prevalence of 4:10,000, Dilated Cardio Myopathy (DCM) is the most common hereditary heart disease. It is characterized by chamber dilatation with thinned chamber walls, combined with a reduction in the ejection fraction. DCM usually leads to the clinical picture of heart failure. The only curative therapy so far is cardiac transplantation, which is limited to severely symptomatic DCM patients. As a common cause of DCM, mutations of the TITIN gene, encoding a sarcomeric protein, have been recognized
Goal: The project aims for development and implementation of a phenotypic approach exploiting a physiologically highly-relevant disease model and the identification of small molecules targeting the sarcomere formation in the cardiomyocytes derived from dilated DCM patient-specific iPSC.
Development stage: Assay validation