Research ArticleMuscular Dystrophy

Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy

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Science Translational Medicine  18 Apr 2018:
Vol. 10, Issue 437, eaan0713
DOI: 10.1126/scitranslmed.aan0713

Exon skipping to treat DMD

Duchenne muscular dystrophy (DMD) is an inherited muscle disorder that is ultimately fatal. A deficiency in normal dystrophin, a structural protein that is indispensable for muscle cell function, causes severe damage to muscle cells. This dystrophin deficiency is due to mutations in the gene encoding dystrophin. Komaki et al. have now developed a morpholino antisense oligonucleotide, NS-065/NCNP-01, designed to recover dystrophin function and halt muscle damage by skipping exon 53 in the dystrophin gene. These authors report the results of a phase 1 clinical trial of NS-065/NCNP-01 conducted in 10 patients with DMD. The drug showed a favorable safety profile and pharmacokinetics, and the authors demonstrated that it effectively skipped exon 53 in the dystrophin gene, suggesting that a phase 2 trial of the drug is warranted.

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