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KMID : 0311120200610040273
Yonsei Medical Journal
2020 Volume.61 No. 4 p.273 ~ p.283
Nusinersen as a Therapeutic Agent for Spinal Muscular Atrophy
Li Qing

Abstract
The reduction of survival motor neuron (SMN) protein causes spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease. Nusinersen is an antisense oligonucleotide, approved by the FDA, which specifically binds to the repressor within SMN2 exon 7 to enhance exon 7 inclusion and augment production of functional SMN protein. Nusinersen is the first new oligonucleotide-based drug targeting the central nervous system for the treatment of SMA. This review of nusinersen will discuss its action mechanism, cellular uptake, trafficking mechanisms, and administration approaches to cross the blood-brain barrier. Furthermore, nusinersen clinical trials will be assessed in terms of pharmacokinetics, tolerability and safety, the clinical outcomes of multiple intrathecal doses, and a discussion on the primary and secondary endpoints.
KEYWORD
Nusinersen, survival of motor neuron gene, phosphonothioate antisense oligonucleotides, exon splicing, cellular uptake, blood-brain barrier
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