Myofibrillar Myopathy

Project open for codevelopment


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

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