Introduction: Duchenne muscular dystrophy (DMD) is a progressive genetic disease characterized by muscular weakness with a global prevalence of 7.1 cases per 100,000 males. DMD is caused by mutations of the dystrophin gene on the X chromosome, which is responsible for dystrophin protein production. Dystrophin is a cytoskeletal protein that contributes to structural support in muscle cells. DMD mutations result in dystrophin protein deficiency, which leads to muscle damage and the associated clinical presentation.
Areas covered: Corticosteroids such as prednisone and deflazacort are routinely given to patients to treat inflammation, but their use is limited by the occurrence of side effects and a lack of standardized prescribing. Exon-skipping medications are emerging as treatment options for a small portion of DMD patients, even though efficacy is uncertain. Many new therapeutics are under development that target inflammation, fibrosis, and dystrophin replacement.
Expert opinion: Because of side effects associated with corticosteroid use, there is need for better alternatives to the standard of care. Excessive cost is a barrier to patients receiving medications that have yet to have established efficacy. Additional therapies have the potential to help patients with DMD, although most are several years away from approval for patient use.
Keywords: CAP-1002; TAS-205; corticosteroids; exon-skipping; gene therapy; givinostat; idebenone; ifetroban; tamoxifen; vamorolone.