{"id":"https://openalex.org/W4389368368","doi":"https://doi.org/10.1212/wnl.98.18_supplement.1463","title":"Preferences Related to Treatment of Spinal Muscular Atrophy (SMA): Qualitative Study of SMA Caregivers and Health Care Professionals Treating SMA Types 1 and 2 in the United States (P16-5.005)","display_name":"Preferences Related to Treatment of Spinal Muscular Atrophy (SMA): Qualitative Study of SMA Caregivers and Health Care Professionals Treating SMA Types 1 and 2 in the United States (P16-5.005)","publication_year":2022,"publication_date":"2022-05-03","ids":{"openalex":"https://openalex.org/W4389368368","doi":"https://doi.org/10.1212/wnl.98.18_supplement.1463"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.98.18_supplement.1463","doi":"https://doi.org/10.1212/wnl.98.18_supplement.1463","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.98.18_supplement.1463","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/A5080691892","display_name":"Anish A Patel","orcid":"https://orcid.org/0000-0002-1880-7991","observed_orcids":["https://orcid.org/0000-0002-1880-7991"]},"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":"Anish Patel","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/A5110298085","display_name":"Natalia Hawken","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210125737","display_name":"Creativ-Ceutical (France)","ror":"https://ror.org/02v6jgb22","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210125737"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Natalia Hawken","raw_affiliation_strings":["Creativ-Ceutical"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Creativ-Ceutical","institution_ids":["https://openalex.org/I4210125737"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064197337","display_name":"Samuel Aball\u00e9a","orcid":"https://orcid.org/0000-0002-6037-2039","observed_orcids":["https://orcid.org/0000-0002-6037-2039"]},"institutions":[{"id":"https://openalex.org/I4210125737","display_name":"Creativ-Ceutical (France)","ror":"https://ror.org/02v6jgb22","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210125737"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Samuel Aballea","raw_affiliation_strings":["Creativ-Ceutical"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Creativ-Ceutical","institution_ids":["https://openalex.org/I4210125737"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046566763","display_name":"Magdalena Bebrysz","orcid":"https://orcid.org/0000-0001-8448-1056","observed_orcids":["https://orcid.org/0000-0001-8448-1056"]},"institutions":[{"id":"https://openalex.org/I4210125737","display_name":"Creativ-Ceutical (France)","ror":"https://ror.org/02v6jgb22","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210125737"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Magdalena Bebrysz","raw_affiliation_strings":["Creativ-Ceutical"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Creativ-Ceutical","institution_ids":["https://openalex.org/I4210125737"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073850552","display_name":"Walter Toro","orcid":"https://orcid.org/0000-0002-5369-497X","observed_orcids":["https://orcid.org/0000-0002-5369-497X"]},"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":"Walter Toro Jimenez","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/A5023788329","display_name":"Nicole M. LaMarca","orcid":"https://orcid.org/0000-0001-6597-789X","observed_orcids":["https://orcid.org/0000-0001-6597-789X"]},"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":"Nicole LaMarca","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/A5078295037","display_name":"Omar H. Dabbous","orcid":"https://orcid.org/0000-0002-0788-9012","observed_orcids":["https://orcid.org/0000-0002-0788-9012"]},"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":"Omar Dabbous","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":"last","author":{"id":"https://openalex.org/A5021893934","display_name":"Mondher Toumi","orcid":"https://orcid.org/0000-0001-7939-7204","observed_orcids":["https://orcid.org/0000-0001-7939-7204"]},"institutions":[{"id":"https://openalex.org/I4210125737","display_name":"Creativ-Ceutical (France)","ror":"https://ror.org/02v6jgb22","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210125737"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Mondher Toumi","raw_affiliation_strings":["Creativ-Ceutical"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Creativ-Ceutical","institution_ids":["https://openalex.org/I4210125737"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"98","issue":"18_supplement","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":1.0,"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":1.0,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":9.999999747378752e-05,"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/T11274","display_name":"Botulinum Toxin and Related Neurological Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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","display_name":"spinal muscular atrophy","score":0.949999988079071},{"id":"https://openalex.org/keywords/treatment-preferences","display_name":"treatment preferences","score":0.6430000066757202},{"id":"https://openalex.org/keywords/disease-modifying-therapy","display_name":"disease-modifying therapy","score":0.8019999861717224},{"id":"https://openalex.org/keywords/caregivers","display_name":"caregivers","score":0.6809999942779541},{"id":"https://openalex.org/keywords/healthcare-workers","display_name":"healthcare workers","score":0.9959999918937683},{"id":"https://openalex.org/keywords/onasemnogene-abeparvovec","display_name":"onasemnogene abeparvovec","score":0.9679999947547913},{"id":"https://openalex.org/keywords/nusinersen","display_name":"nusinersen","score":0.996999979019165},{"id":"https://openalex.org/keywords/risdiplam","display_name":"risdiplam","score":0.9950000047683716},{"id":"https://openalex.org/keywords/gene-replacement-therapy","display_name":"gene replacement therapy","score":0.7110000252723694},{"id":"https://openalex.org/keywords/treatment-burden","display_name":"treatment burden","score":0.7229999899864197},{"id":"https://openalex.org/keywords/treatment-accessibility","display_name":"treatment accessibility","score":0.902999997138977},{"id":"https://openalex.org/keywords/treatment-safety","display_name":"treatment safety","score":0.7799999713897705},{"id":"https://openalex.org/keywords/pediatric-neurology","display_name":"pediatric neurology","score":0.671999990940094},{"id":"https://openalex.org/keywords/patient-centered-care","display_name":"patient-centered care","score":0.34700000286102295},{"id":"https://openalex.org/keywords/reimbursement","display_name":"reimbursement","score":0.33500000834465027}],"concepts":[{"id":"https://openalex.org/C161921814","wikidata":"https://www.wikidata.org/wiki/Q493743","display_name":"SMA*","level":2,"score":0.9832695722579956},{"id":"https://openalex.org/C2778558090","wikidata":"https://www.wikidata.org/wiki/Q580290","display_name":"Spinal muscular atrophy","level":3,"score":0.9255168437957764},{"id":"https://openalex.org/C2779242764","wikidata":"https://www.wikidata.org/wiki/Q129","display_name":"Thursday","level":2,"score":0.7605047225952148},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6909127235412598},{"id":"https://openalex.org/C74909509","wikidata":"https://www.wikidata.org/wiki/Q10387","display_name":"Gerontology","level":1,"score":0.4595988392829895},{"id":"https://openalex.org/C3019806175","wikidata":"https://www.wikidata.org/wiki/Q11974939","display_name":"Health professionals","level":3,"score":0.42714327573776245},{"id":"https://openalex.org/C1862650","wikidata":"https://www.wikidata.org/wiki/Q186005","display_name":"Physical therapy","level":1,"score":0.42714187502861023},{"id":"https://openalex.org/C160735492","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Health care","level":2,"score":0.3833017349243164},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.3651692271232605},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2739010751247406},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.12759408354759216},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"score":0.05658802390098572},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0},{"id":"https://openalex.org/C114614502","wikidata":"https://www.wikidata.org/wiki/Q76592","display_name":"Combinatorics","level":1,"score":0.0},{"id":"https://openalex.org/C199539241","wikidata":"https://www.wikidata.org/wiki/Q7748","display_name":"Law","level":1,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1212/wnl.98.18_supplement.1463","doi":"https://doi.org/10.1212/wnl.98.18_supplement.1463","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.98.18_supplement.1463","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":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4403588052","https://openalex.org/W3113225329","https://openalex.org/W4389447596","https://openalex.org/W4410547571","https://openalex.org/W4380149506","https://openalex.org/W4200475935","https://openalex.org/W3205848517","https://openalex.org/W4383531882","https://openalex.org/W4200084468","https://openalex.org/W4296514344"],"abstract_inverted_index":{"Objective:":[0],"We":[1],"sought":[2],"to":[3,130,189,202,250,287,316],"investigate":[4],"the":[5,204,254,261,281,328,448],"most":[6,255],"important":[7,256],"treatment":[8,39,70,76,162,167,190,199,243,262],"characteristic":[9],"preferences":[10,67,119,292],"of":[11,84,89,137,171,178,181,198,221,226,238,242,245,258,263,272,308,320,330,352,366,383,409,424,450],"US":[12,15],"families":[13],"and":[14,51,55,65,86,107,111,118,128,146,151,173,196,224,240,252,267,274,289],"health":[16],"care":[17],"professionals":[18],"(HCPs)":[19],"in":[20,40,155,160,213,327,447],"choosing":[21],"disease-modifying":[22],"treatments":[23,122],"(DMTs)":[24],"for":[25,37,68,74,120,260,283,293,303,332,337,347,361,378,404,419,452,457],"SMA":[26,38,90,121,144,161,264,294],"type":[27],"1":[28,266],"or":[29,216,219,231,391,433],"2.":[30],"Background:":[31],"Three":[32],"DMTs":[33,145,259],"have":[34],"been":[35],"approved":[36],"recent":[41],"years:":[42],"a":[43,81,284,335,455],"one-time":[44],"intravenous":[45],"gene":[46,59],"replacement":[47],"therapy,":[48],"onasemnogene":[49],"abeparvovec,":[50],"ongoing":[52],"intrathecal":[53],"(nusinersen)":[54],"oral":[56],"(risdiplam)":[57],"SMN2":[58],"splicing":[60],"modifiers.":[61],"Data":[62],"on":[63,80,186,210],"caregiver":[64],"HCP":[66],"different":[69],"characteristics":[71,257],"are":[72],"useful":[73],"informing":[75],"choices.":[77],"Design/Methods:":[78],"Based":[79],"literature":[82],"review":[83],"patients\u2019":[85,175],"caregivers\u2019":[87,291],"perceptions":[88],"treatments,":[91],"we":[92],"created":[93],"an":[94,306,350,364,381,392,407,422,434],"interview":[95],"guide":[96],"that":[97],"includes":[98],"scripted":[99],"prompts.":[100],"Detailed":[101],"one-on-one":[102],"telephone":[103],"interviews":[104],"with":[105,117,158],"caregivers":[106,136,251],"HCPs":[108,148,207],"were":[109,123,126,269],"conducted":[110],"recorded,":[112],"during":[113],"which":[114],"their":[115],"experiences":[116],"obtained.":[124],"Transcripts":[125],"analyzed":[127],"summarized":[129],"highlight":[131],"participants\u2019":[132],"responses.":[133],"Results:":[134],"Four":[135],"children":[138],"(ages":[139],"3\u201315":[140],"years)":[141],"who":[142],"received":[143,300,324,344,358,375,389,401,416,431,444],"four":[147],"(three":[149],"neurologists":[150],"one":[152],"nurse":[153],"specializing":[154],"pediatric":[156],"neurology)":[157],"experience":[159],"participated.":[163],"Caregivers":[164],"primarily":[165,208],"considered":[166,236],"effectiveness":[168,211],"(increasing":[169],"chances":[170],"survival":[172],"improving":[174],"independence),":[176],"burden":[177,271],"administration":[179,191,239],"(invasiveness":[180],"administration,":[182,273],"total":[183],"time":[184],"spent":[185],"activities":[187],"related":[188],"[including":[192],"travel]),":[193],"long-term":[194],"safety,":[195],"accessibility":[197,241],"(time":[200],"needed":[201],"obtain":[203],"first":[205],"dose).":[206],"focused":[209],"(improvement":[212],"motor,":[214],"respiratory,":[215],"bulbar":[217],"function,":[218],"slowing":[220],"disease":[222],"progression)":[223],"availability/quality":[225],"evidence":[227],"(clinical":[228],"trial":[229],"data":[230],"personal":[232,301,325,345,359,376,402,417,445],"observation),":[233],"but":[234],"also":[235],"invasiveness":[237],"(ease":[244],"obtaining":[246],"reimbursement).":[247],"Conclusions:":[248],"According":[249],"HCPs,":[253],"types":[265],"2":[268],"effectiveness,":[270],"accessibility.":[275],"These":[276],"initial":[277],"results":[278],"will":[279],"provide":[280],"basis":[282],"quantitative":[285],"study":[286],"measure":[288],"prioritize":[290],"treatments.":[295],"Disclosure:":[296],"Dr.":[297,312,354,371,385],"Patel":[298],"has":[299,314,323,343,357,374,388,400,415,430,443],"compensation":[302,326,346,360,377,403,418,446],"serving":[304,333,348,362,379,405,420,453],"as":[305,334,349,363,380,406,421,454],"employee":[307,351,365,382,408,423],"Novartis":[309,338,367,410,425,438],"Gene":[310,339,368,411,426,439],"Therapies.":[311,340,412,427,440],"Hawken-Hakimi":[313],"nothing":[315],"disclose.":[317],"The":[318],"institution":[319],"Samuel":[321],"Aballea":[322],"range":[329,449],"$500-$4,999":[331,451],"Consultant":[336,456],"Ms.":[341],"Bebrysz":[342],"Creativ-Ceutical.":[353],"Toro":[355,372,386],"Jimenez":[356,373,387],"Therapies,":[369],"Inc.":[370],"Astellas.":[384],"stock":[390,432],"ownership":[393,435],"interest":[394,436],"from":[395,437],"Novartis.":[396,458],"Nicole":[397],"Marie":[398],"LaMarca":[399],"Omar":[413,428],"Dabbous":[414,429],"Prof.":[441],"Toumi":[442]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2023-12-07T00:00:00"}