Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease and affects all world populations equally.
The cause of this genetic disease is loss of a single protein, dystrophin, in all types of muscle (ie, skeletal, cardiac, and smooth) and in neurons. The loss of protein function is the consequence of mutations in the large DMD gene.
Serepta Therapeutics
Illustrations
Stakeholder Presentation
Innovative therapeutic approaches for DMD have emerged in the past 30 years, with many in clinical trials. These include slowing the progression of the disease by immune modulators (eg, steroids and transforming growth factor-β inhibitors), inducing or introducing proteins that may compensate for dystrophin deficiency in the myofiber (eg, utrophin, biglycan, and laminin), or bolstering the muscle’s regenerative response (eg, myostatin and activin 2B). A parallel approach places dystrophin back into patient muscle.
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