Journal
NEUROSCIENCE INSIGHTS
Volume 15, Issue -, Pages -Publisher
SAGE PUBLICATIONS LTD
DOI: 10.1177/2633105520973985
Keywords
SMA; splicing; SMN; ISS-N1; antisense oligonucleotide; risdiplam; Spinraza; nusinersen; Branaplam; Evrysdi; Zolgensma
Categories
Funding
- National Institutes of Health [R01 NS055925]
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Spinal muscular atrophy (SMA) is 1 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 (TM)), 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 (TM)), 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.
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