Exon skipping therapy for brain dysfunction in Duchenne muscular dystrophy

Eri Takeuchi, Yoshitsugu Aoki

Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry（NCNP）

Duchenne muscular dystrophy（DMD） is an X-linked muscular disorder that presents progressive muscle wasting caused by a mutation in the DMD gene.　Additionally, 30% of DMD shows psychiatric disorders, such as autism and high anxiety, due to a lack of dystrophin from the brain.　Exon skipping is one of the promising therapeutic approaches for DMD in addition to steroids.　Recently, we have developed an antisense oligonucleotide based-drug named viltolarsen, which could induce skipping of exon 53 of the DMD.　We achieved conditional early approval for viltolarsen in 2020.　In this review article, we present recent advances in the development of exon skipping therapy and discuss its future use by focusing on brain dysfunction in DMD.

Address correspondence to Dr. Yoshitsugu Aoki, Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry （NCNP）（4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan）