Pathogenetic therapy for Duchenne muscular dystrophy: Russian experience with viltolarsen

Duchenne muscular dystrophy is the most severe form of hereditary myopathies in boys, caused by mutations in the DMD gene, located on the X chromosome at the Xp21.2–p21.1 locus and encoding the dystrophin protein. The most common mutations are deletions of one or more exons (about 70 % of cases), which disrupt the reading frame and lead to the synthesis of a shortened and non-functional dystrophin protein, which causes the breakdown of skeletal muscle fibers (rhabdomyolysis) and progressive muscle weakness. The disease clinically manifests at the age of 2–5 years and rapidly progresses to the loss of the ability to walk independently by 8–12 years and death in the second or third decade of life due to respiratory and cardiac failure. The authors present Russian experience in the use of a gene therapy drug for the treatment of Duchenne muscular dystrophy using the exon skipping method, exemplified by the only registered drug of this class in Russia for Duchenne muscular dystrophy therapy – viltolarsen (Viltepso®).