Pharmaceutical Products and Non-pharmaceutical Interventions as Potential Treatments for Patients with Muscular Dystrophy

Abstract

At no time in the history of muscular dystrophy has the future looked brighter. With over 240 studies listed in the U.S.—and at least 11 candidates in the later phases of drug development (e.g., Phase II or Phase III)—the stage is set for positive change. More groundwork is needed, however, such as the conduct of natural history studies, establishment of more global patient registries, and completion of additional genetic and molecular studies, to better understand MD and to identify promising targets. Indeed, it has historically proven difficult to find preclinical and animal models of disease. Several promising approaches to DMD are in the pipeline, including: “exon skipping” drug candidates, which target the mutation that occurs in the gene for dystrophin in individuals with DMD; gene therapy, aimed at introducing a healthy synthetic copy of the dystrophin gene into the muscles to restore production of dystrophin; “reading through stop signals” by targeting a specific type of mistake in the genetic code called a nonsense mutation, which prevents the production of full-length functional proteins; stem cell therapy, where donor cells are injected with the aim of creating healthy muscle fibers; utrophin upregulation, aimed at increasing levels of utrophin, a protein that is functionally similar to dystrophin; and reducing muscle damage. As ongoing studies are completed, it is hoped that the mechanism of disease will become better elucidated, more targets will be identified, and more companies will be willing to invest in clinical trials.