The proteins and structures of certain processes associated with muscular dystrophy (MD) are beginning to be elucidated by scientists based on recent advances in our understanding of genetics. MD is a group of diseases that are clinically manifested in patients as progressive muscle weakness with associated loss of mobility, agility, and body movements as a result of defects in genes for the production of muscle proteins that result in the death of muscle cells and tissue.

With these scientific advances, the number of potential pharmaceutical targets has increased, resulting in heightened interest in investment, partnership, and collaboration. For example, GlaxoSmithKline (GSK) recently announced its first discovery partnership with academia, with the Fred Hutchinson Cancer Center for the treatment of FSHD [1].

In addition, many companies pursing potential treatments for MD have advanced to the Phase II and Phase III stage of clinical drug development, and one product from PCT Therapeutics may be fully approved in 2015.

This advancement from PCT Therapeutics would be the first drug approved for the treatment of the Duchenne and Becker forms of muscular dystrophy (DMD and BMD), which are genetic disorders that develop primarily in boys. They are caused by different mutations in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during the childhood and teen years. Ataluren (to be marketed as Translarna™) is an orally delivered drug intended to overcome the effects of a specific type of mutation, called a nonsense mutation, which is the cause of DMD and BMD in approximately 10–15% of individuals with the disease [2]. A nonsense mutation is an abnormality in a sequence of DNA that results in a truncated, incomplete, and usually nonfunctional protein product.