Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a rare, genetic condition that is characterized by progressive muscle damage and weakness. It is caused by a genetic mutation that prevents the body from producing a protein called dystrophin, which is an important protein that protects muscle cells from injury during contraction. The lack of functional dystrophin leads to stress and tears of muscle cell membranes, resulting in muscle cell death and progressive loss of muscle function. Those living with the condition often require special aid and assistance throughout their lives and have significantly shortened life expectancy. DMD is a monogenic, X-linked, recessive disease that primarily affects males, with 1 in 3,500 to 5,000 boys born worldwide having Duchenne.
We are developing AOCs to treat the underlying cause of DMD. The oligonucleotides in our AOCs are designed to promote the skipping of specific exons to allow the production of the dystrophin gene product in patients with DMD. In preclinical studies, we observed that treatment of an mdx mouse, a widely used animal model for DMD, with an AOC caused a greater than 50-fold increase in exon skipping compared to an equimolar dose of the unconjugated oligonucleotide.