Small molecule utrophin up-regulators for treatment of muscular dystrophy

Technology Overview:

Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy affecting 1 in 3,600 boys, and is caused by mutations in the dystrophin gene. DMD leads to progressive muscle degeneration and eventually death. Many strategies have been proposed and are being studied for treatment of DMD and other more rare dystrophinopathies; however, currently there is no cure or effective treatment.

The Penn inventors have had a long standing interest in developing and testing strategies to increase expression of utrophin, a protein that can functionally substitute for dystrophin, and thereby, maintain muscle integrity and improve muscle strength in DMD patients. The investigators have identified several small molecule compounds, that they have demonstrated upregulate utrophin expression in a muscle cell line.