{"doi":"10.1177/2633105520973985","title":"The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy","abstract":"<jats:p>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.</jats:p>","journal":"Neuroscience Insights","year":2020,"id":17622,"datarank":2.7244789528361295,"base_score":4.543294782270004,"endowment":4.543294782270004,"self_citation_contribution":0.6814942173405006,"citation_network_contribution":2.042984735495629,"self_endowment_contribution":0.6814942173405006,"citer_contribution":2.042984735495629,"corpus_percentile":null,"corpus_rank":null,"citation_count":93,"citer_count":81,"citers_with_citation_signal":62,"citers_with_endowment":62,"datacite_reuse_total":4,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":125500,"name":"Eric W Ottesen","orcid":null,"position":1,"is_corresponding":false},{"id":125501,"name":"Natalia N Singh","orcid":null,"position":2,"is_corresponding":false},{"id":125499,"name":"Ravindra N Singh","orcid":"0000-0001-5399-2662","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":4.543294782270004,"endowment":4.543294782270004,"datacite_reuse_total":4,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"33283185","pmcid":"PMC7691903","openalex_id":"https://openalex.org/W3108608859","authors":[],"funders":[{"funder_name":"National Institute of Neurological Disorders and Stroke","grant_id":"R01 NS055925","title":null},{"funder_name":"National Institutes of Health","grant_id":"5R01NS055925-11","title":"Characterization of a complex regulatory element of Spinal Muscular Atrophy genes"}],"total_grants":2,"fwci":7.3095,"citation_percentile":0.97900836,"influential_citations":2,"citation_trend":[{"year":2021,"count":28},{"year":2022,"count":13},{"year":2023,"count":17},{"year":2024,"count":20},{"year":2025,"count":7},{"year":2026,"count":8}],"oa_status":"gold","license":"cc-by-nc","oa_locations":[{"url":"https://journals.sagepub.com/doi/pdf/10.1177/2633105520973985","host_type":"journal"},{"url":"https://journals.sagepub.com/doi/pdf/10.1177/2633105520973985","host_type":"GOLD"},{"url":"https://journals.sagepub.com/doi/pdf/10.1177/2633105520973985","host_type":"publisher"},{"url":"https://journals.sagepub.com/doi/full-xml/10.1177/2633105520973985","host_type":"publisher"},{"url":"https://doi.org/10.1177/2633105520973985","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/33283185","host_type":"repository"},{"url":"https://lib.dr.iastate.edu/bms_pubs/93","host_type":"repository"},{"url":"https://doaj.org/article/1aeb11e6c91c44138bc93500dd0f12ad","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7691903","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC7691903","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC7691903?pdf=render","host_type":"Europe_PMC"},{"url":"http://dx.doi.org/10.1177/2633105520973985","host_type":""},{"url":"https://dx.doi.org/10.1177/2633105520973985","host_type":""},{"url":"https://doi.org/https://doi.org/20.500.12876/104824","host_type":""},{"url":"https://doi.org/https://doi.org/10.1177/2633105520973985","host_type":""}],"fields_of_study":["Neurogenetic and Muscular Disorders Research","RNA modifications and cancer","RNA Research and Splicing","Medicine","0301 basic medicine","0303 health sciences","03 medical and health sciences"],"mesh_terms":[],"keywords":["SMN1","Spinal muscular atrophy","SMA*","Exon","RNA splicing","Medicine","Deliverable","Genetic enhancement","Motor neuron","Bioinformatics","Gene","Biology","Genetics","Internal medicine","Disease","RNA","Computer science","SMA","Antisense oligonucleotide","Splicing","Smn","Iss-n1","Nusinersen","Spinraza","Risdiplam","Zolgensma","Evrysdi","Branaplam","Genetic Processes","Diagnostic and Therapeutic Techniques and Equipment","570","610","Neurosciences. Biological psychiatry. Neuropsychiatry","Review","Analytical","Molecular and Cellular Neuroscience","RC321-571"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. 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