Therapeutic Development for Dystroglycanopathy Caused by Glycosylation Defects

Muscular dystrophies are a group of hereditary intractable diseases, among which a subgroup known as dystroglycanopathies is caused by defective glycosylation of a membrane-associated protein in muscle cells. In Japan, the prevalence of this disorder is relatively high due to a founder effect, and the development of disease-modifying therapies has long been awaited. Recent advances in glycobiology and genetic medicine have led to the emergence of therapeutic approaches based on underlying disease mechanisms, with some candidate drugs already entering clinical trials. In this review, we present our research on drug development using disease model mice for dystroglycanopathy, and outline global trends and challenges in therapeutic development for dystroglycanopathy.