Duchenne Muscular Dystrophy (DMD)
BMN-195: Utrophin Inducer for Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is one of the most common causes of muscle disease in children and affects 1 per 3500 male births. The majority of patients do not make the protein dystrophin due to genetic deletions or nonsense mutations. Duchenne patients are usually diagnosed at 2-5 years of age with muscle weakness, waddling gait and coordination problems. Patients become wheelchair bound by age 12. In later life all skeletal muscles are impacted by DMD, but worsening respiratory function due to diaphragmatic disease, and cardiac failure due to cardiac muscle disease, typically result in death in the late teens or twenties.
BioMarin’s proposed treatment of DMD is the use of a small molecule inducer of utrophin gene expression, a naturally occurring homologue gene of dystrophin that is normally only expressed in fetal muscle. Inducing the recurrence of utrophin gene expression in DMD patients is hoped to replace the dystrophin deficiency and lead to amelioration or reversal of DMD symptoms.