{"id":"https://openalex.org/W2969920726","doi":null,"title":"Accessibility and Availability of Orphan Drugs: Challenges and Potential Solutions","display_name":"Accessibility and Availability of Orphan Drugs: Challenges and Potential Solutions","publication_year":2019,"publication_date":"2019-08-27","ids":{"openalex":"https://openalex.org/W2969920726","mag":"2969920726"},"language":"en","primary_location":{"id":"pmh:oai:dspace.library.uu.nl:1874/383234","doi":null,"is_oa":true,"landing_page_url":"https://dspace.library.uu.nl/handle/1874/383234","pdf_url":null,"source":{"id":"https://openalex.org/S4306401649","display_name":"Utrecht University Repository (Utrecht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193662353","host_organization_name":"Utrecht University","host_organization_lineage":["https://openalex.org/I193662353"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dissertation"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://dspace.library.uu.nl/handle/1874/383234","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5068872948","display_name":"Mohammed Aldosari","orcid":"https://orcid.org/0000-0003-1301-5669","observed_orcids":["https://orcid.org/0000-0003-1301-5669"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Mohammed Aldosari","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-1301-5669","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5068872948"],"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":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11792","display_name":"Pharmaceutical Economics and Policy","score":0.9932000041007996,"subfield":{"id":"https://openalex.org/subfields/2002","display_name":"Economics and Econometrics"},"field":{"id":"https://openalex.org/fields/20","display_name":"Economics, Econometrics and Finance"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},"topics":[{"id":"https://openalex.org/T11792","display_name":"Pharmaceutical Economics and Policy","score":0.9932000041007996,"subfield":{"id":"https://openalex.org/subfields/2002","display_name":"Economics and Econometrics"},"field":{"id":"https://openalex.org/fields/20","display_name":"Economics, Econometrics and Finance"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},{"id":"https://openalex.org/T12547","display_name":"Pharmaceutical studies and practices","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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":0.0005000000237487257,"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/orphan-drugs","display_name":"orphan drugs","score":0.9980000257492065},{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.9929999709129333},{"id":"https://openalex.org/keywords/access-to-medicines","display_name":"access to medicines","score":0.8700000047683716},{"id":"https://openalex.org/keywords/medicine-availability","display_name":"drug availability","score":0.6899999976158142},{"id":"https://openalex.org/keywords/regulatory-incentives","display_name":"regulatory incentives","score":0.8479999899864197},{"id":"https://openalex.org/keywords/low-and-middle-income-countries","display_name":"low- and middle-income countries","score":0.7839999794960022},{"id":"https://openalex.org/keywords/cost-based-pricing","display_name":"cost-based pricing","score":0.7649999856948853},{"id":"https://openalex.org/keywords/drug-development","display_name":"drug development","score":0.5120000243186951},{"id":"https://openalex.org/keywords/niemann-pick-disease-type-b","display_name":"Niemann-Pick disease type B","score":0.9620000123977661},{"id":"https://openalex.org/keywords/olipudase-alfa","display_name":"olipudase alfa","score":0.8840000033378601},{"id":"https://openalex.org/keywords/pharmaceutical-formulations","display_name":"drug formulation","score":0.8149999976158142},{"id":"https://openalex.org/keywords/systemic-toxicity","display_name":"systemic toxicity","score":0.8180000185966492},{"id":"https://openalex.org/keywords/unmet-medical-need","display_name":"unmet clinical needs","score":0.8700000047683716}],"concepts":[{"id":"https://openalex.org/C75480439","wikidata":"https://www.wikidata.org/wiki/Q1367466","display_name":"Orphan drug","level":2,"score":0.948489248752594},{"id":"https://openalex.org/C29122968","wikidata":"https://www.wikidata.org/wiki/Q1414816","display_name":"Incentive","level":2,"score":0.7365712523460388},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.6012892723083496},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5134261846542358},{"id":"https://openalex.org/C2780665704","wikidata":"https://www.wikidata.org/wiki/Q959298","display_name":"Intervention (counseling)","level":2,"score":0.5094974637031555},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4986274242401123},{"id":"https://openalex.org/C144133560","wikidata":"https://www.wikidata.org/wiki/Q4830453","display_name":"Business","level":0,"score":0.48378488421440125},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4589231610298157},{"id":"https://openalex.org/C100001284","wikidata":"https://www.wikidata.org/wiki/Q2248246","display_name":"Public economics","level":1,"score":0.4044472575187683},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.36528533697128296},{"id":"https://openalex.org/C112930515","wikidata":"https://www.wikidata.org/wiki/Q4389547","display_name":"Risk analysis (engineering)","level":1,"score":0.342536985874176},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.29463303089141846},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.18221938610076904},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.15935683250427246},{"id":"https://openalex.org/C162324750","wikidata":"https://www.wikidata.org/wiki/Q8134","display_name":"Economics","level":0,"score":0.12738037109375},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.1050521731376648},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.09321296215057373},{"id":"https://openalex.org/C175444787","wikidata":"https://www.wikidata.org/wiki/Q39072","display_name":"Microeconomics","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:dspace.library.uu.nl:1874/383234","doi":null,"is_oa":true,"landing_page_url":"https://dspace.library.uu.nl/handle/1874/383234","pdf_url":null,"source":{"id":"https://openalex.org/S4306401649","display_name":"Utrecht University Repository (Utrecht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193662353","host_organization_name":"Utrecht University","host_organization_lineage":["https://openalex.org/I193662353"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dissertation"},{"id":"pmh:uu:oai:dspace.library.uu.nl:1874/383234","doi":null,"is_oa":true,"landing_page_url":"https://dspace.library.uu.nl/handle/1874/383234","pdf_url":null,"source":{"id":"https://openalex.org/S4306401649","display_name":"Utrecht University Repository (Utrecht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193662353","host_organization_name":"Utrecht University","host_organization_lineage":["https://openalex.org/I193662353"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/doctoralthesis"},{"id":"mag:2969920726","doi":null,"is_oa":false,"landing_page_url":"https://dspace.library.uu.nl/handle/1874/383234","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:dspace.library.uu.nl:1874/383234","doi":null,"is_oa":true,"landing_page_url":"https://dspace.library.uu.nl/handle/1874/383234","pdf_url":null,"source":{"id":"https://openalex.org/S4306401649","display_name":"Utrecht University Repository (Utrecht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193662353","host_organization_name":"Utrecht University","host_organization_lineage":["https://openalex.org/I193662353"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dissertation"},"sustainable_development_goals":[{"score":0.8371999859809875,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"},{"score":0.4074000120162964,"display_name":"Reduced inequalities","id":"https://metadata.un.org/sdg/10"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W1983163757","https://openalex.org/W2020963416","https://openalex.org/W2051925512","https://openalex.org/W2082411152","https://openalex.org/W2097603366","https://openalex.org/W2097649441","https://openalex.org/W2131080517","https://openalex.org/W2148402382","https://openalex.org/W2167168347","https://openalex.org/W2608656888","https://openalex.org/W2903075365"],"related_works":["https://openalex.org/W6968321567","https://openalex.org/W2075154791","https://openalex.org/W2019375534","https://openalex.org/W4309175815","https://openalex.org/W2362832266","https://openalex.org/W4321782488","https://openalex.org/W2035505404","https://openalex.org/W1513116330","https://openalex.org/W2418000223","https://openalex.org/W2049101394"],"abstract_inverted_index":{"A":[0,230],"rare":[1,25,36,80,87,178,189],"disease":[2,214],"is":[3,98],"a":[4,9,63,141,159],"health":[5],"disorder":[6],"that":[7,110,148,241],"affects":[8],"small":[10],"proportion":[11],"(i.e.,":[12],"<1:2,000":[13],"in":[14,70,101,113,162,206],"Europe)":[15],"of":[16,35,47,62,65,75,79,94,165,172,188],"the":[17,39,45,54,60,114,123,133,170,207,238],"population.":[18],"There":[19],"are":[20,69,111,129,182,204],"more":[21],"than":[22],"7000":[23],"distinct":[24],"diseases":[26,37,81,88,196],"affecting":[27],"350-400":[28],"million":[29],"people":[30],"worldwide.":[31],"The":[32,92,154,209],"low":[33],"prevalence":[34],"makes":[38],"drug":[40,210,231,248],"development":[41,211],"economically":[42],"unattractive.":[43],"However,":[44],"introduction":[46,61],"regulatory":[48,155],"and":[49,57,85,103,139,168],"legal":[50],"incentives":[51,156],"has":[52,219,233],"encouraged":[53],"pharmaceutical":[55],"industry":[56],"led":[58],"to":[59,107,121,131,200,226,236],"number":[64],"orphan":[66,96,146],"therapies,":[67],"which":[68,116,203],"general":[71,119],"very":[72],"costly.":[73],"Notwithstanding":[74],"incentives,":[76],"only":[77],"4%":[78],"have":[82,157,199],"specific":[83,126],"therapies":[84],"many":[86,95,175,197],"still":[89],"lack":[90],"treatment.":[91],"access":[93,134],"drugs":[97,147],"constrained,":[99],"especially":[100],"low-":[102],"middle-income":[104],"countries,":[105],"due":[106],"several":[108],"challenges":[109,198],"highlighted":[112,205],"thesis,":[115],"also":[117],"contains":[118],"recommendations":[120],"improve":[122,132,169],"accessibility.":[124],"Furthermore,":[125],"intervention":[127],"approaches":[128],"suggested":[130],"such":[135],"as":[136],"bedside":[137],"production":[138],"employing":[140],"cost-based":[142],"pricing":[143],"approach":[144],"for":[145,174,186,194,212],"do":[149],"not":[150],"meet":[151],"cost-effectiveness":[152],"thresholds.":[153],"played":[158],"major":[160],"role":[161],"providing":[163],"hundreds":[164],"therapeutic":[166,184],"options":[167],"quality":[171],"life":[173],"patients":[176],"with":[177,244],"diseases;":[179],"however,":[180],"there":[181],"unmet":[183],"needs":[185],"96%":[187],"diseases.":[190],"To":[191],"develop":[192],"treatment":[193,221],"these":[195,228],"be":[201],"overcome":[202],"thesis.":[208],"Niemann-Pick":[213],"type":[215],"B":[216],"(ultra-rare":[217],"disease)\u2014that":[218],"no":[220],"available":[222],"yet,":[223],"was":[224,242],"initiated":[225],"experience":[227],"challenges.":[229],"formulation":[232],"been":[234],"developed":[235],"minimize":[237],"systemic":[239],"toxicity":[240],"observed":[243],"an":[245],"investigational":[246],"biological":[247],"\u201colipudase":[249],"alfa\u201d":[250],"at":[251],"high":[252],"doses.":[253]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2019-08-29T00:00:00"}