2021 Volume 38 Issue 3 Pages 270-273
Duchenne muscular dystrophy (DMD) is a fatal, inherited progressive muscle degenerative disorder and a prototypical rare disease for the development of advanced precision medicines. There is currently no cure and therefore, an urgent need for new therapies to extend lifespan and improve quality–of–life for DMD patients. Currently, exon skipping therapy by antisense oligonucleotide is a promising approach to treat DMD. We have reported the proof of concept of exon skipping, using dystrophic mouse or dog models in addition to DMD patient–derived cells. Based on those preclinical findings, National Center of Neurology and Psychiatry and Nippon Shinyaku Co., Ltd. have achieved marketing approvals of viltolarsen, phosphorodiamidate morpholino–based oligonucleotide drug, for DMD in Japan and the USA in 2020. As the next step, to address psychiatric symptoms in DMD, we characterize the absence and impact of brain dystrophin isoforms in DMD mouse models.
