Duchenne muscular dystrophy is a multifaceted, complex disease, so CureDuchenne has been working to “treat the whole disease,” with a multi-pronged approach to find treatments for the many effects that Duchenne has on the body. The ultimate goal is to offer cures for all patients.
The exon-skipping drugs drisapersen and eteplirsen are two examples of CureDuchenne’s investment in this area of research. They encourage cells to “skip” or ignore damaged exons – sections of a gene that carry instructions for the rest of the body. In Duchenne patients, a mutation in one exon on the gene for the protein dystrophin can rob the body of the ability to build or maintain healthy muscle tissue.
CureDuchenne has also supported research into the drug ataluren, which aims to help individuals whose Duchenne stems from a premature stop codon mutation. Such mutations can prevent the body from producing full-length, functional proteins.