Therapeutic area: Muscular Disorders, Cardiomyopathy
Disease: Myofibrillar Myopathy
Monogenic inroad: Desmin
Cellular Model: Cardiomyocytes
Project Origin: Sorbonne University, Prof. Onnik Agbulut
Medical need: Myofibrillar myopathies are a group of rare genetic neuromuscular disorders that may be diagnosed in childhood but most often appear after 40 years of age. Various genes responsible for MFM have been identified. Desminopathy leads to an early onset of the disease (20 – 30 years). Conditions are highly variable but are characterized by a slowly progressive muscle weakness. A weakening of the heart muscle (cardiomyopathy) is common and manifests as arrhythmia, conduction defects and eventually congestive heart failure. There is no disease specific therapy available
Goal: The project aims for development and implementation of a phenotypic approach exploiting a physiologically highly-relevant disease model based on iPSCs derived from MFM patients with mutations in DESMIN differentiated into cardiomyocytes for the development of disease modifying treatments
Development stage: Disease Model Validation