科研之友
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摘要
Duchenne muscular dystrophy (DMD) is a progressive disorder with no standard curative treatment. Current therapy focuses on steroids to slow muscle wastage and treatment of associated comorbidities. DMD is caused by mutations in the gene encoding dystrophin, which results in loss of the dystrophin protein essential for muscle fiber stability. For more than a decade, potential treatment has been aimed towards the investigation of antisense oligoribonucleotides (AONs) to induce exon skipping of mutations in the DMD gene to produce a truncated protein with partial function. Prosena/GlaxoSmithKline have developed the first AON to enter clinical evaluation, drisapersen sodium. The AON induces exon 51 skipping and restoration of dystrophin in the mdx mouse model of DMD and in patient myofibers. In a phase I/IIa study in 12 patients with DMD, treatment successfully induced exon skipping, restored dystrophin levels, reduced serum creatine kinase levels and improved muscle performance. Treatment-related adverse events are mild and no patients have been discontinued. In 2009, orphan drug designation in the E.U. and U.S. was assigned to drisapersen sodium for the treatment of DMD. In 2013, drisapersen received a breakthrough therapy designation. Drisapersen sodium is undergoing phase I-III clinical evaluation as a monotherapy for the treatment of DMD.
- 出版日期2013-9
