{"id":"https://openalex.org/W4413956553","doi":"https://doi.org/10.3233/shti251386","title":"Open Source Registry System for Rare Diseases (OSSE): Development and Usability Evaluation of an Initial Audit Trail Prototype","display_name":"Open Source Registry System for Rare Diseases (OSSE): Development and Usability Evaluation of an Initial Audit Trail Prototype","publication_year":2025,"publication_date":"2025-09-03","ids":{"openalex":"https://openalex.org/W4413956553","doi":"https://doi.org/10.3233/shti251386","pmid":"https://pubmed.ncbi.nlm.nih.gov/40899533"},"language":"en","primary_location":{"id":"doi:10.3233/shti251386","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti251386","pdf_url":null,"source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.3233/shti251386","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5119528524","display_name":"Tim Vincent Knecht","orcid":null},"institutions":[{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Tim Vincent Knecht","raw_affiliation_strings":["Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany"],"raw_orcid":"https://orcid.org/0009-0008-6609-4675","affiliations":[{"raw_affiliation_string":"Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany","institution_ids":["https://openalex.org/I114090438"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020050824","display_name":"Jens G\u00f6bel","orcid":"https://orcid.org/0000-0001-8625-0841"},"institutions":[{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Jens G\u00f6bel","raw_affiliation_strings":["Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany"],"raw_orcid":"https://orcid.org/0000-0001-8625-0841","affiliations":[{"raw_affiliation_string":"Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany","institution_ids":["https://openalex.org/I114090438"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003745934","display_name":"Axel Zieschank","orcid":null},"institutions":[{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Axel Zieschank","raw_affiliation_strings":["Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany"],"raw_orcid":"https://orcid.org/0009-0006-5317-2481","affiliations":[{"raw_affiliation_string":"Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany","institution_ids":["https://openalex.org/I114090438"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089041972","display_name":"Holger Storf","orcid":"https://orcid.org/0000-0001-8126-9535"},"institutions":[{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Holger Storf","raw_affiliation_strings":["Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany"],"raw_orcid":"https://orcid.org/0000-0001-8126-9535","affiliations":[{"raw_affiliation_string":"Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany","institution_ids":["https://openalex.org/I114090438"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5070788834","display_name":"Jessica Vasseur","orcid":"https://orcid.org/0000-0002-7378-9829"},"institutions":[{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Jessica Vasseur","raw_affiliation_strings":["Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany"],"raw_orcid":"https://orcid.org/0000-0002-7378-9829","affiliations":[{"raw_affiliation_string":"Goethe University Frankfurt, University Medicine, Institute of Medical Informatics (IMI), Frankfurt am Main, Germany","institution_ids":["https://openalex.org/I114090438"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5119528524"],"corresponding_institution_ids":["https://openalex.org/I114090438"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.53263158,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"331","issue":null,"first_page":"112","last_page":"121"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10350","display_name":"Electronic Health Records Systems","score":0.6596999764442444,"subfield":{"id":"https://openalex.org/subfields/3605","display_name":"Health Information Management"},"field":{"id":"https://openalex.org/fields/36","display_name":"Health Professions"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10350","display_name":"Electronic Health Records Systems","score":0.6596999764442444,"subfield":{"id":"https://openalex.org/subfields/3605","display_name":"Health Information Management"},"field":{"id":"https://openalex.org/fields/36","display_name":"Health Professions"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.07590000331401825,"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/T11819","display_name":"Data-Driven Disease Surveillance","score":0.02630000002682209,"subfield":{"id":"https://openalex.org/subfields/2713","display_name":"Epidemiology"},"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/usability","display_name":"Usability","score":0.9127005338668823},{"id":"https://openalex.org/keywords/audit","display_name":"Audit","score":0.7537004351615906},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6058661937713623},{"id":"https://openalex.org/keywords/traceability","display_name":"Traceability","score":0.5547006130218506},{"id":"https://openalex.org/keywords/system-usability-scale","display_name":"System usability scale","score":0.5537015795707703},{"id":"https://openalex.org/keywords/scale","display_name":"Scale (ratio)","score":0.44161421060562134},{"id":"https://openalex.org/keywords/user-interface","display_name":"User interface","score":0.4208885133266449},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.3516358435153961},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.3495942950248718},{"id":"https://openalex.org/keywords/process-management","display_name":"Process management","score":0.3353695869445801},{"id":"https://openalex.org/keywords/software-engineering","display_name":"Software engineering","score":0.3035884499549866},{"id":"https://openalex.org/keywords/human\u2013computer-interaction","display_name":"Human\u2013computer interaction","score":0.26607710123062134},{"id":"https://openalex.org/keywords/heuristic-evaluation","display_name":"Heuristic evaluation","score":0.23556524515151978},{"id":"https://openalex.org/keywords/engineering","display_name":"Engineering","score":0.19181153178215027},{"id":"https://openalex.org/keywords/business","display_name":"Business","score":0.11475059390068054},{"id":"https://openalex.org/keywords/accounting","display_name":"Accounting","score":0.10762354731559753},{"id":"https://openalex.org/keywords/operating-system","display_name":"Operating system","score":0.09097477793693542},{"id":"https://openalex.org/keywords/geography","display_name":"Geography","score":0.08009043335914612}],"concepts":[{"id":"https://openalex.org/C170130773","wikidata":"https://www.wikidata.org/wiki/Q216378","display_name":"Usability","level":2,"score":0.9127005338668823},{"id":"https://openalex.org/C199521495","wikidata":"https://www.wikidata.org/wiki/Q181487","display_name":"Audit","level":2,"score":0.7537004351615906},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6058661937713623},{"id":"https://openalex.org/C153876917","wikidata":"https://www.wikidata.org/wiki/Q899704","display_name":"Traceability","level":2,"score":0.5547006130218506},{"id":"https://openalex.org/C139225968","wikidata":"https://www.wikidata.org/wiki/Q17146354","display_name":"System usability scale","level":4,"score":0.5537015795707703},{"id":"https://openalex.org/C2778755073","wikidata":"https://www.wikidata.org/wiki/Q10858537","display_name":"Scale (ratio)","level":2,"score":0.44161421060562134},{"id":"https://openalex.org/C89505385","wikidata":"https://www.wikidata.org/wiki/Q47146","display_name":"User interface","level":2,"score":0.4208885133266449},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.3516358435153961},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.3495942950248718},{"id":"https://openalex.org/C195094911","wikidata":"https://www.wikidata.org/wiki/Q14167904","display_name":"Process management","level":1,"score":0.3353695869445801},{"id":"https://openalex.org/C115903868","wikidata":"https://www.wikidata.org/wiki/Q80993","display_name":"Software engineering","level":1,"score":0.3035884499549866},{"id":"https://openalex.org/C107457646","wikidata":"https://www.wikidata.org/wiki/Q207434","display_name":"Human\u2013computer interaction","level":1,"score":0.26607710123062134},{"id":"https://openalex.org/C3255780","wikidata":"https://www.wikidata.org/wiki/Q1616517","display_name":"Heuristic evaluation","level":3,"score":0.23556524515151978},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.19181153178215027},{"id":"https://openalex.org/C144133560","wikidata":"https://www.wikidata.org/wiki/Q4830453","display_name":"Business","level":0,"score":0.11475059390068054},{"id":"https://openalex.org/C121955636","wikidata":"https://www.wikidata.org/wiki/Q4116214","display_name":"Accounting","level":1,"score":0.10762354731559753},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.09097477793693542},{"id":"https://openalex.org/C205649164","wikidata":"https://www.wikidata.org/wiki/Q1071","display_name":"Geography","level":0,"score":0.08009043335914612},{"id":"https://openalex.org/C58640448","wikidata":"https://www.wikidata.org/wiki/Q42515","display_name":"Cartography","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D011795","descriptor_name":"Surveys and Questionnaires","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011795","descriptor_name":"Surveys and Questionnaires","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012042","descriptor_name":"Registries","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012042","descriptor_name":"Registries","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":"Q000458","qualifier_name":"organization & administration","is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":"Q000458","qualifier_name":"organization & administration","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.3233/shti251386","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti251386","pdf_url":null,"source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},{"id":"pmid:40899533","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40899533","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,"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":"Studies in health technology and informatics","raw_type":null}],"best_oa_location":{"id":"doi:10.3233/shti251386","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti251386","pdf_url":null,"source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4389372346","https://openalex.org/W4321269040","https://openalex.org/W4312686479","https://openalex.org/W3134655686","https://openalex.org/W4318240367","https://openalex.org/W4399756683","https://openalex.org/W3212641776","https://openalex.org/W4315621326","https://openalex.org/W4206998946","https://openalex.org/W4312350580"],"abstract_inverted_index":{"INTRODUCTION:":[0],"An":[1],"audit":[2,44,86,167,205],"trail":[3,45,87],"is":[4],"of":[5,25,37,41,88,121,135,140,177,188,222],"critical":[6,162],"importance":[7,187],"for":[8,46,52,61,94,151,165,202],"patient":[9,63,128],"registries":[10],"and":[11,23,34,76,127,208,220],"electronic":[12],"data":[13],"capture":[14],"(EDC)":[15],"systems,":[16],"as":[17,105,107],"it":[18],"ensures":[19],"transparency,":[20],"integrity,":[21],"traceability":[22],"security":[24],"the":[26,32,47,81,85,89,100,146,154,166,175,186,194,200,204,213,217],"collected":[27],"data.":[28],"This":[29],"work":[30],"demonstrates":[31],"development":[33],"usability":[35,219],"evaluation":[36],"an":[38,42,56],"initial":[39,155],"prototype":[40,67],"accessible":[43],"Open":[48],"Source":[49],"Registry":[50],"System":[51,101],"Rare":[53],"Diseases":[54],"(OSSE),":[55],"open":[57],"source":[58],"software":[59],"tool":[60],"building":[62],"registries.":[64,129],"METHODS:":[65],"The":[66,131,158],"comprises":[68],"a":[69,138],"new":[70],"user":[71,195],"interface":[72],"with":[73,118,125],"list":[74],"views":[75,78],"detailed":[77],"to":[79,112,142,181,192,215],"make":[80],"information":[82],"stored":[83],"in":[84,123,153,212],"OSSE":[90,126],"EDC":[91],"database":[92],"available":[93],"users.":[95],"A":[96],"standardized":[97],"questionnaire,":[98],"including":[99],"Usability":[102],"Scale":[103],"(SUS)":[104],"well":[106],"task-based":[108],"section,":[109],"was":[110],"used":[111],"gather":[113],"feedback":[114],"from":[115],"15":[116],"participants":[117],"varying":[119],"levels":[120],"experience":[122],"working":[124],"RESULTS:":[130],"resulting":[132],"SUS":[133],"score":[134],"66":[136],"(on":[137],"scale":[139],"0":[141],"100)":[143],"falls":[144],"within":[145],"marginal":[147],"range,":[148],"suggesting":[149],"room":[150],"improvement":[152],"prototype's":[156],"usability.":[157],"survey":[159],"also":[160],"highlighted":[161],"features":[163,191],"necessary":[164],"trail's":[168,206],"functionality.":[169],"CONCLUSION:":[170],"Several":[171],"respondents":[172],"noted":[173],"that":[174],"lack":[176],"these":[178,190],"functionalities":[179,211],"led":[180],"their":[182],"negative":[183],"responses,":[184],"emphasizing":[185],"implementing":[189],"improve":[193,216],"experience.":[196],"These":[197],"insights":[198],"form":[199],"basis":[201],"refining":[203],"structure":[207],"adding":[209],"essential":[210],"future":[214],"overall":[218],"quality":[221],"OSSE.":[223]},"counts_by_year":[],"updated_date":"2026-04-29T09:16:38.111599","created_date":"2025-10-10T00:00:00"}
