{"id":"https://openalex.org/W4367303247","doi":"https://doi.org/10.1212/wnl.0000000000202549","title":"Long-Term Follow-Up of Onasemnogene Abeparvovec Gene Therapy in Patients with Spinal Muscular Atrophy Type 1 (P7-9.006)","display_name":"Long-Term Follow-Up of Onasemnogene Abeparvovec Gene Therapy in Patients with Spinal Muscular Atrophy Type 1 (P7-9.006)","publication_year":2023,"publication_date":"2023-04-25","ids":{"openalex":"https://openalex.org/W4367303247","doi":"https://doi.org/10.1212/wnl.0000000000202549"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.0000000000202549","doi":"https://doi.org/10.1212/wnl.0000000000202549","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.0000000000202549","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033165427","display_name":"J. Mendell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1314135232","display_name":"Nationwide Children's Hospital","ror":"https://ror.org/003rfsp33","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1314135232"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jerry Mendell","raw_affiliation_strings":["Center for Gene Therapy, Nationwide Children\u2019s Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Gene Therapy, Nationwide Children\u2019s Hospital","institution_ids":["https://openalex.org/I1314135232"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032896063","display_name":"Melissa Wigderson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4391012585","display_name":"Novartis Gene Therapies, Inc. (United States)","ror":"https://ror.org/02gd4zp35","country_code":"GB","type":"company","lineage":["https://openalex.org/I1283582996","https://openalex.org/I4210117619","https://openalex.org/I4391012585"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Melissa Wigderson","raw_affiliation_strings":["Novartis Gene Therapies, Inc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Novartis Gene Therapies, Inc","institution_ids":["https://openalex.org/I4391012585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045496183","display_name":"Iulian Alecu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Iulian Alecu","raw_affiliation_strings":["Novartis Pharmaceuticals"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Novartis Pharmaceuticals","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100562824","display_name":"Lina Yang","orcid":"https://orcid.org/0000-0001-9098-1276","observed_orcids":["https://orcid.org/0000-0001-9098-1276"]},"institutions":[{"id":"https://openalex.org/I4391012585","display_name":"Novartis Gene Therapies, Inc. (United States)","ror":"https://ror.org/02gd4zp35","country_code":"GB","type":"company","lineage":["https://openalex.org/I1283582996","https://openalex.org/I4210117619","https://openalex.org/I4391012585"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Lina Yang","raw_affiliation_strings":["Novartis Gene Therapies, Inc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Novartis Gene Therapies, Inc","institution_ids":["https://openalex.org/I4391012585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073990694","display_name":"Lesa Mehl","orcid":"https://orcid.org/0009-0006-5460-4493","observed_orcids":["https://orcid.org/0009-0006-5460-4493"]},"institutions":[{"id":"https://openalex.org/I1283582996","display_name":"Novartis (Switzerland)","ror":"https://ror.org/02f9zrr09","country_code":"CH","type":"company","lineage":["https://openalex.org/I1283582996"]},{"id":"https://openalex.org/I4400600974","display_name":"Novartis Institutes for BioMedical Research","ror":"https://ror.org/053gv2m95","country_code":"CH","type":"funder","lineage":["https://openalex.org/I1283582996","https://openalex.org/I4400600974"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Lesa Mehl","raw_affiliation_strings":["Novartis Institutes for BioMedical Research"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Novartis Institutes for BioMedical Research","institution_ids":["https://openalex.org/I1283582996","https://openalex.org/I4400600974"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5090389497","display_name":"Anne M. Connolly","orcid":"https://orcid.org/0000-0002-9193-2457","observed_orcids":["https://orcid.org/0000-0002-9193-2457"]},"institutions":[{"id":"https://openalex.org/I1314135232","display_name":"Nationwide Children's Hospital","ror":"https://ror.org/003rfsp33","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1314135232"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anne Connolly","raw_affiliation_strings":["Nationwide Children\u2019s Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nationwide Children\u2019s Hospital","institution_ids":["https://openalex.org/I1314135232"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.6225,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.80970606,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"100","issue":"17_supplement_2","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10613","display_name":"Virus-based gene therapy research","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/spinal-muscular-atrophy-type-1","display_name":"spinal muscular atrophy type 1","score":0.9909999966621399},{"id":"https://openalex.org/keywords/smn1","display_name":"SMN1","score":0.5419999957084656},{"id":"https://openalex.org/keywords/smn2","display_name":"SMN2","score":0.9020000100135803},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.7360000014305115},{"id":"https://openalex.org/keywords/long-term-safety","display_name":"long-term safety","score":0.9430000185966492},{"id":"https://openalex.org/keywords/long-term-efficacy","display_name":"long-term efficacy","score":0.8209999799728394},{"id":"https://openalex.org/keywords/developmental-milestones","display_name":"developmental milestones","score":0.902999997138977},{"id":"https://openalex.org/keywords/respiratory-support","display_name":"respiratory support","score":0.765999972820282},{"id":"https://openalex.org/keywords/nusinersen","display_name":"nusinersen","score":0.8169999718666077},{"id":"https://openalex.org/keywords/risdiplam","display_name":"risdiplam","score":0.9919999837875366},{"id":"https://openalex.org/keywords/adjunctive-therapy","display_name":"adjunctive therapy","score":0.5860000252723694},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.47099998593330383},{"id":"https://openalex.org/keywords/dehydration","display_name":"dehydration","score":0.7990000247955322}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8131061792373657},{"id":"https://openalex.org/C2778558090","wikidata":"https://www.wikidata.org/wiki/Q580290","display_name":"Spinal muscular atrophy","level":3,"score":0.6252492666244507},{"id":"https://openalex.org/C197934379","wikidata":"https://www.wikidata.org/wiki/Q2047938","display_name":"Adverse effect","level":2,"score":0.5905749201774597},{"id":"https://openalex.org/C163276114","wikidata":"https://www.wikidata.org/wiki/Q484591","display_name":"Natural history","level":2,"score":0.5678607821464539},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.5318244099617004},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.49852538108825684},{"id":"https://openalex.org/C120060458","wikidata":"https://www.wikidata.org/wiki/Q10145","display_name":"Milestone","level":2,"score":0.49014052748680115},{"id":"https://openalex.org/C2778279407","wikidata":"https://www.wikidata.org/wiki/Q6980711","display_name":"Natural history study","level":3,"score":0.44882872700691223},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.34959888458251953},{"id":"https://openalex.org/C95457728","wikidata":"https://www.wikidata.org/wiki/Q309","display_name":"History","level":0,"score":0.0},{"id":"https://openalex.org/C166957645","wikidata":"https://www.wikidata.org/wiki/Q23498","display_name":"Archaeology","level":1,"score":0.0},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1212/wnl.0000000000202549","doi":"https://doi.org/10.1212/wnl.0000000000202549","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.0000000000202549","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4387306512","https://openalex.org/W3125511131","https://openalex.org/W4389449398","https://openalex.org/W3145549342","https://openalex.org/W7154001607","https://openalex.org/W3160334825","https://openalex.org/W4414801375","https://openalex.org/W3124870890","https://openalex.org/W4205225392","https://openalex.org/W4402515639"],"abstract_inverted_index":{"Objective:":[0],"Evaluate":[1],"long-term":[2,66],"safety":[3,67],"and":[4,21,77,102,110,131,174,195,277,291],"efficacy":[5,293],"of":[6,48,89,107,121,161,187,218,232,238,253,309,327,355,388,416,441,466,491,515,539],"onasemnogene":[7,49],"abeparvovec":[8,50,283],"in":[9,202,234,306,324,363,369,405,413,438,463,488,512,536],"patients":[10,41,94,152,220,240,255],"with":[11,189,197,214],"spinal":[12],"muscular":[13],"atrophy":[14],"type":[15],"1":[16],"(SMA1;":[17],"biallelic":[18],"SMN1":[19],"mutations/deletions":[20],"two":[22,268],"SMN2":[23],"copies)":[24],"who":[25,42,153],"enrolled":[26,101],"into":[27],"the":[28,34,44,155,203,222,257,265,307,325,414,439,464,489,513,537],"LT-001":[29],"study":[30],"(NCT03421977).":[31],"Background:":[32],"In":[33,126],"Phase":[35],"I":[36],"trial":[37],"(START;":[38],"NCT02122952),":[39],"SMA1":[40],"received":[43,154,261,303,321,339,347,380,410,435,460,485,509,533],"proposed":[45],"therapeutic":[46,97,156,223,258],"dose":[47,157,224,259],"(n=12)":[51],"demonstrated":[52],"substantially":[53],"improved":[54],"outcomes":[55],"versus":[56],"natural":[57],"history.":[58],"Design/Methods:":[59],"The":[60,115],"primary":[61],"objective":[62],"was":[63,81,118],"to":[64,142,275,285,295,375],"evaluate":[65],"assessed":[68],"by":[69,83],"medical":[70],"history/record":[71],"review,":[72],"physical":[73],"examination,":[74],"laboratory":[75],"evaluation,":[76],"pulmonary":[78],"assessments.":[79],"Efficacy":[80],"evaluated":[82],"assessing":[84],"developmental":[85,178,185,209],"milestones.":[86,179],"Results:":[87],"As":[88],"May":[90],"23,":[91],"2022,":[92],"13":[93],"(low-dose,":[95],"n=3;":[96],"dose,":[98],"n=10)":[99],"were":[100,133,149,159],"followed":[103],"for":[104,311,316,329,334,350,383,397,418,429,443,454,468,479,493,504,517,528,541,552],"a":[105,183,228,287,314,332,421,446,471,496,520,544],"mean":[106],"95.1":[108],"(low-dose)":[109],"83.5":[111],"(therapeutic":[112],"dose)":[113],"months.":[114],"oldest":[116],"patient":[117,201],"8.5":[119],"years":[120,124,297],"age":[122,166],"(8.0":[123],"post-dosing).":[125],"five":[127,231],"patients,":[128],"respiratory":[129,226],"events":[130,140,148],"dehydration":[132],"reported.":[134,150],"No":[135],"deaths,":[136],"serious":[137],"treatment-emergent":[138],"adverse":[139],"related":[141],"treatment,":[143],"or":[144,424,449,474,499,523,547],"any":[145,244],"late-onset":[146],"treatment":[147],"All":[151],"survived,":[158],"free":[160],"permanent":[162],"ventilation":[163],"(mean":[164],"[range]":[165],"at":[167],"last":[168],"data":[169],"cut,":[170],"7.1":[171],"[6.6\u20137.9]":[172],"years),":[173],"have":[175,181],"maintained":[176],"achieved":[177,182,207],"Three":[180],"new":[184,208],"milestone":[186],"standing":[188],"assistance":[190],"(two":[191],"without":[192],"add-on":[193,262],"therapy":[194],"one":[196,278],"nusinersen":[198,274],"add-on).":[199],"One":[200],"low-dose":[204],"cohort":[205],"also":[206],"milestones":[210],"(head":[211],"control,":[212],"sitting":[213],"support).":[215],"Only":[216],"three":[217,271],"10":[219,233,239,249,254],"receiving":[221,256],"required":[225],"support,":[227],"decrease":[229],"from":[230,273,342],"December":[235],"2019.":[236],"Four":[237,252],"did":[241],"not":[242],"require":[243],"non-mechanical":[245],"feeding":[246],"support;":[247],"all":[248],"fed":[250],"orally.":[251],"never":[260],"therapy.":[263],"Of":[264],"six":[266],"remaining,":[267],"started":[269],"risdiplam,":[270,276],"switched":[272],"discontinued":[279],"nusinersen.":[280],"Conclusions:":[281],"Onasemnogene":[282],"continues":[284],"demonstrate":[286],"favorable":[288],"risk-benefit":[289],"profile":[290],"durable":[292],"up":[294],"8":[296],"post-dosing.":[298],"Disclosure:":[299],"Dr.":[300,318,336,344,359,365,371,407,432,457,482,506,530],"Mendell":[301,319,337],"has":[302,320,338,346,361,367,373,379,403,409,434,459,484,508,532],"personal":[304,322,348,381,411,436,461,486,510,534],"compensation":[305,323,349,382,412,437,462,487,511,535],"range":[308,326,415,440,465,490,514,538],"$10,000-$49,999":[310,328],"serving":[312,330,351,384,419,444,469,494,518,542],"as":[313,331,352,385],"Consultant":[315,333],"Vertex.":[317],"Novartis.":[335,364,370,406],"research":[340],"support":[341],"Sarepta.":[343,529],"Wigderson":[345,360],"an":[353,386],"employee":[354,387],"Novartis":[356,391,395],"Gene":[357,392],"Therapies.":[358],"stock":[362,368,404],"Alecu":[366],"Yang":[372],"nothing":[374],"disclose.":[376],"Lesa":[377,401],"Mehl":[378,402],"AveXis":[389],"/":[390,394],"Therapies":[393],"Institutes":[396],"Biomedical":[398],"Research,":[399],"Inc.":[400],"Connolly":[408,433,458,483,507,531],"$5,000-$9,999":[417,516],"on":[420,445,470,495,519,543],"Scientific":[422,447,472,497,521,545],"Advisory":[423,448,473,498,522,546],"Data":[425,450,475,500,524,548],"Safety":[426,451,476,501,525,549],"Monitoring":[427,452,477,502,526,550],"board":[428,453,478,503,527,551],"Genentech":[430],"Roche.":[431],"$500-$4,999":[442,467],"Edgewise":[455],"Therapeutics.":[456,481],"Dyne":[480],"$0-$499":[492,540],"Octapharma.":[505],"Biohaven.":[553]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2023-04-29T00:00:00"}