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Article Abstract
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 gene. Its nearly identical copy, , fails to compensate for the loss of due to predominant skipping of exon 7. Correction of 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691903 | PMC |
| http://dx.doi.org/10.1177/2633105520973985 | DOI Listing |
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