Campus Units

Biomedical Sciences

Document Type

Article

Publication Version

Published Version

Publication Date

1-1-2020

Journal or Book Title

Neuroscience Insights

Volume

15

DOI

10.1177/2633105520973985

Abstract

Spinal muscular atrophy (SMA) is one of the leading causes of infant mortality. SMA is mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or mutation in the SMN1 gene. Its nearly identical copy, SMN2, fails to compensate for the loss of SMN1 due to predominant skipping of exon 7. Correction of SMN2 exon 7 splicing by an antisense oligonucleotide (ASO), nusinersen (Spinraza™), that targets the intronic splicing silencer N1 (ISS-N1) became the first approved therapy for SMA. Restoration of SMN levels using gene therapy was the next. Very recently, an orally deliverable small molecule, risdiplam (Evrysdi™), became the third approved therapy for SMA. Here we discuss how these therapies are positioned to meet the needs of the broad phenotypic spectrum of SMA patients.

Comments

This article is published as Singh, Ravindra N., Eric W. Ottesen, and Natalia N. Singh. "The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy." Neuroscience Insights 15 (2020). DOI: 10.1177/2633105520973985. Posted with permission.

Creative Commons License

Creative Commons Attribution-Noncommercial 4.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial 4.0 License

Copyright Owner

The Author(s)

Language

en

File Format

application/pdf

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