{"id":"https://openalex.org/W2743710445","doi":"https://doi.org/10.1212/wnl.0000000000004343","title":"Rare disease levels of evidence","display_name":"Rare disease levels of evidence","publication_year":2017,"publication_date":"2017-08-12","ids":{"openalex":"https://openalex.org/W2743710445","doi":"https://doi.org/10.1212/wnl.0000000000004343","mag":"2743710445","pmid":"https://pubmed.ncbi.nlm.nih.gov/28801339"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.0000000000004343","doi":"https://doi.org/10.1212/wnl.0000000000004343","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.0000000000004343","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":"editorial","is_traditional":true,"indexed_in":["crossref","pubmed"],"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/A5082026989","display_name":"Vera Bril","orcid":"https://orcid.org/0000-0002-5805-4883","observed_orcids":["https://orcid.org/0000-0002-5805-4883"]},"institutions":[{"id":"https://openalex.org/I1325899441","display_name":"University Health Network","ror":"https://ror.org/042xt5161","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1325899441"]},{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I193531525","display_name":"George Washington University","ror":"https://ror.org/00y4zzh67","country_code":"US","type":"education","lineage":["https://openalex.org/I193531525"]}],"countries":["CA","US"],"is_corresponding":false,"raw_author_name":"Vera Bril","raw_affiliation_strings":["From The Ellen and Martin Prosserman Centre for Neuromuscular Diseases (V.B.), University Health Network, University of Toronto, Canada; and Department of Neurology (H.J.K.), George Washington University, Washington, DC","Department of Neurology (H.J.K.), George Washington University, Washington, DC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From The Ellen and Martin Prosserman Centre for Neuromuscular Diseases (V.B.), University Health Network, University of Toronto, Canada; and Department of Neurology (H.J.K.), George Washington University, Washington, DC","institution_ids":["https://openalex.org/I1325899441","https://openalex.org/I185261750","https://openalex.org/I193531525"]},{"raw_affiliation_string":"Department of Neurology (H.J.K.), George Washington University, Washington, DC","institution_ids":["https://openalex.org/I193531525"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5068116120","display_name":"Henry J. Kaminski","orcid":"https://orcid.org/0000-0002-8195-0141","observed_orcids":["https://orcid.org/0000-0002-8195-0141"]},"institutions":[{"id":"https://openalex.org/I1325899441","display_name":"University Health Network","ror":"https://ror.org/042xt5161","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1325899441"]},{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I193531525","display_name":"George Washington University","ror":"https://ror.org/00y4zzh67","country_code":"US","type":"education","lineage":["https://openalex.org/I193531525"]}],"countries":["CA","US"],"is_corresponding":false,"raw_author_name":"Henry J. Kaminski","raw_affiliation_strings":["From The Ellen and Martin Prosserman Centre for Neuromuscular Diseases (V.B.), University Health Network, University of Toronto, Canada; and Department of Neurology (H.J.K.), George Washington University, Washington, DC","Department of Neurology (H.J.K.), George Washington University, Washington, DC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From The Ellen and Martin Prosserman Centre for Neuromuscular Diseases (V.B.), University Health Network, University of Toronto, Canada; and Department of Neurology (H.J.K.), George Washington University, Washington, DC","institution_ids":["https://openalex.org/I1325899441","https://openalex.org/I185261750","https://openalex.org/I193531525"]},{"raw_affiliation_string":"Department of Neurology (H.J.K.), George Washington University, Washington, DC","institution_ids":["https://openalex.org/I193531525"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"89","issue":"10","first_page":"988","last_page":"989"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11271","display_name":"Myasthenia Gravis and Thymoma","score":0.9585000276565552,"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"}},"topics":[{"id":"https://openalex.org/T11271","display_name":"Myasthenia Gravis and Thymoma","score":0.9585000276565552,"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"}},{"id":"https://openalex.org/T11235","display_name":"Statistical Methods in Clinical Trials","score":0.014399999752640724,"subfield":{"id":"https://openalex.org/subfields/2613","display_name":"Statistics and Probability"},"field":{"id":"https://openalex.org/fields/26","display_name":"Mathematics"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},{"id":"https://openalex.org/T12664","display_name":"Clinical practice guidelines implementation","score":0.010700000450015068,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"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/level-of-evidence","display_name":"level of evidence","score":0.8790000081062317},{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.7300000190734863},{"id":"https://openalex.org/keywords/rituximab","display_name":"rituximab","score":0.9829999804496765},{"id":"https://openalex.org/keywords/randomized-controlled-trials","display_name":"randomized controlled trials","score":0.8759999871253967},{"id":"https://openalex.org/keywords/retrospective-study","display_name":"retrospective analysis","score":0.5720000267028809},{"id":"https://openalex.org/keywords/trial-design-limitations","display_name":"trial design limitations","score":0.42800000309944153}],"concepts":[{"id":"https://openalex.org/C168563851","wikidata":"https://www.wikidata.org/wiki/Q1436668","display_name":"Randomized controlled trial","level":2,"score":0.7422778010368347},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6202359795570374},{"id":"https://openalex.org/C19648533","wikidata":"https://www.wikidata.org/wiki/Q691640","display_name":"Evidence-based medicine","level":3,"score":0.4706543982028961},{"id":"https://openalex.org/C535046627","wikidata":"https://www.wikidata.org/wiki/Q30612","display_name":"Clinical trial","level":2,"score":0.46661821007728577},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.44153472781181335},{"id":"https://openalex.org/C2780653079","wikidata":"https://www.wikidata.org/wiki/Q412323","display_name":"Rituximab","level":3,"score":0.43684279918670654},{"id":"https://openalex.org/C204787440","wikidata":"https://www.wikidata.org/wiki/Q188504","display_name":"Alternative medicine","level":2,"score":0.33944177627563477},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2212125062942505},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.149262934923172},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"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/C2779338263","wikidata":"https://www.wikidata.org/wiki/Q208414","display_name":"Lymphoma","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000069283","descriptor_name":"Rituximab","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005229","descriptor_name":"Fatty Acids, Monounsaturated","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009157","descriptor_name":"Myasthenia Gravis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1212/wnl.0000000000004343","doi":"https://doi.org/10.1212/wnl.0000000000004343","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.0000000000004343","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"},{"id":"pmid:28801339","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28801339","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"Editorial"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":4,"referenced_works":["https://openalex.org/W1869564459","https://openalex.org/W2127140689","https://openalex.org/W2475786228","https://openalex.org/W2742758273"],"related_works":["https://openalex.org/W2792180707","https://openalex.org/W3035760563","https://openalex.org/W2742758273","https://openalex.org/W2098536913","https://openalex.org/W4231905947","https://openalex.org/W2989152910","https://openalex.org/W7131405686","https://openalex.org/W3155756864","https://openalex.org/W3047355777","https://openalex.org/W2045003660"],"abstract_inverted_index":{"A":[0],"report":[1,149],"of":[2,38,53,79,88,105,116,128],"the":[3,8,13,24,36,51,77,148],"Canadian":[4],"Task":[5],"Force":[6],"on":[7,21],"Periodic":[9],"Health":[10],"Examination":[11],"was":[12],"first":[14],"to":[15,49],"propose":[16],"clinical":[17,46,71],"practice":[18],"recommendations":[19],"based":[20],"evidence":[22,39,54,64,95],"in":[23,138,162],"medical":[25],"literature,":[26],"and":[27,81,86],"proposed":[28],"a":[29,57,67],"rating":[30],"scheme.1":[31],"From":[32],"that":[33],"original":[34],"publication,":[35],"categorization":[37],"has":[40],"evolved,":[41],"with":[42],"this":[43,126],"journal":[44],"requiring":[45],"therapeutic":[47],"studies":[48],"provide":[50],"level":[52],"provided":[55],"by":[56,84,98],"report.2":[58],"The":[59],"most":[60],"rigorous":[61],"Class":[62,93,151],"I":[63],"derives":[65],"from":[66],"well-performed":[68],"randomized":[69,109],"controlled":[70],"trial":[72,156],"(RCT).":[73],"Such":[74],"trials":[75,110],"limit":[76],"probability":[78],"bias":[80],"systematic":[82],"errors":[83],"randomization":[85],"masking":[87],"treatment":[89],"assignment.":[90],"In":[91,125],"contrast,":[92],"IV":[94,152],"is":[96],"characterized":[97],"retrospective":[99],"analyses,":[100],"which":[101],"have":[102],"numerous":[103],"sources":[104],"potential":[106],"bias.":[107],"However,":[108],"are":[111,121],"often":[112],"not":[113],"possible":[114],"because":[115],"resource":[117],"limitations,":[118],"whether":[119],"they":[120],"financial":[122],"or":[123],"organizational.":[124],"issue":[127],"Neurology":[129],"\u00ae,":[130],"Hehir":[131],"et":[132],"al.3":[133],"identified":[134],"benefit":[135],"for":[136],"rituximab":[137,163],"muscle-specific":[139],"kinase":[140],"antibody":[141],"myasthenia":[142],"gravis":[143],"(anti-MuSK":[144],"MG).":[145],"Although":[146],"strictly":[147],"provides":[150],"evidence,":[153],"their":[154],"unique":[155],"design":[157],"suggests":[158],"much":[159],"greater":[160],"confidence":[161],"as":[164],"an":[165],"effective":[166],"therapy.":[167]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2017-08-17T00:00:00"}