Myotonic Dystrophy Type 1 (MD1)

Project partnered

Therapeutic area: Neuromuscular Disorders

Disease: Myotonic Dystrophy Type 1 (MD-1)

Monogenic inroad: DMPK

Cellular Model: Patient derived skeletal muscle cells

Project Origin: I-Stem,  Cécile Martinat and Prof Marc Peschanski 

Medical need: MD1 is a type of muscular dystrophy that affects the muscles and other body systems. Its classic form is characterized by muscle weakness and wasting, prolonged muscle tensing, cataract, and often, abnormal heart function. Adults with the classic form often become physically disabled and have a shortened life span. MD1 is inherited in an autosomal dominant manner and is caused by mutations in the DMPK gene. There is currently no disease specific treatment option available

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 functional impairment of myogenic differentiation associated with Myotonic Dystrophy Type 1

Development stage: HCS-HTS pilot study

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