Pub Date : 2024-07-31DOI: 10.1080/21678707.2024.2383173
Ruqaiyyah Siddiqui, David Lloyd, Ahmad M. Alharbi, Naveed Ahmed Khan
Naegleria fowleri is a free-living protist pathogen. Given the opportunity, it can produce infection of the central nervous system. It is distressing that the brain-eating amoebae, Naegleria fowler...
{"title":"Emerging therapies against Naegleria fowleri","authors":"Ruqaiyyah Siddiqui, David Lloyd, Ahmad M. Alharbi, Naveed Ahmed Khan","doi":"10.1080/21678707.2024.2383173","DOIUrl":"https://doi.org/10.1080/21678707.2024.2383173","url":null,"abstract":"Naegleria fowleri is a free-living protist pathogen. Given the opportunity, it can produce infection of the central nervous system. It is distressing that the brain-eating amoebae, Naegleria fowler...","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"57 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141934973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Leishmaniasis, a neglected protozoan illness caused by kinetoplastid pathogens encompasses three major clinical subtypes: visceral, cutaneous and mucocutaneous leishmaniasis. Pentavalent antimonial...
{"title":"Current and emerging therapies for the treatment of leishmaniasis","authors":"Shyam Sundar, Jitendra Singh, Vishal Kumar Singh, Neha Agrawal, Rajiv Kumar","doi":"10.1080/21678707.2024.2335248","DOIUrl":"https://doi.org/10.1080/21678707.2024.2335248","url":null,"abstract":"Leishmaniasis, a neglected protozoan illness caused by kinetoplastid pathogens encompasses three major clinical subtypes: visceral, cutaneous and mucocutaneous leishmaniasis. Pentavalent antimonial...","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"64 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140301727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-20DOI: 10.1080/21678707.2024.2333245
Abraham Viju Ipe, Lewis J. Fermaglich, Selma Kraft, Catherine Mease, Tran Le, Kathleen L. Miller
Rare cancers account for approximately 1 in 8 of all cancers diagnosed in the United States (US) every year. Remarkable scientific advances in cancer research over the past 40 years, in addition to...
{"title":"The Orphan Drug Act and rare cancers: a retrospective analysis of oncologic orphan drug designations and associated approvals from 1983-2022","authors":"Abraham Viju Ipe, Lewis J. Fermaglich, Selma Kraft, Catherine Mease, Tran Le, Kathleen L. Miller","doi":"10.1080/21678707.2024.2333245","DOIUrl":"https://doi.org/10.1080/21678707.2024.2333245","url":null,"abstract":"Rare cancers account for approximately 1 in 8 of all cancers diagnosed in the United States (US) every year. Remarkable scientific advances in cancer research over the past 40 years, in addition to...","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"44 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140203910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-02DOI: 10.1080/21678707.2024.2313766
Nigel S B. Rawson, John Adams
The US Food and Drug Administration (FDA) and European Medicines Agency (EMA) have incentives to stimulate the development and marketing of orphan drugs. Health Canada has none.We identified 82 FDA...
{"title":"Orphan drugs approved in Canada: health technology assessment, price negotiation, and government formulary listing","authors":"Nigel S B. Rawson, John Adams","doi":"10.1080/21678707.2024.2313766","DOIUrl":"https://doi.org/10.1080/21678707.2024.2313766","url":null,"abstract":"The US Food and Drug Administration (FDA) and European Medicines Agency (EMA) have incentives to stimulate the development and marketing of orphan drugs. Health Canada has none.We identified 82 FDA...","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"12 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139664663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-09-28DOI: 10.1080/21678707.2023.2262104
Ying GAO, Mian-Lin ZHONG, Yang-Li DAI, Yong-Hui JIANG, Chao-Chun ZOU
Introduction Prader-Willi syndrome (PWS) is a complicated neurodevelopmental genetic disorder stemming from the loss of expression of imprinted genes within the 15q11-q13 region. It is characterized by impaired hypothalamic development and function. Infants with PWS typically present hypotonia and feeding difficulties, which in later stages of childhood progress to hyperphagia, obesity, and endocrine dysfunctions. However, early diagnosis and treatment have proven effective in mitigating obesity and related co-morbidities in patients with PWS. Moreover, the precise molecular classification of PWS is crucial to tailor the appropriate treatment strategies and provide valuable genetic counseling.
{"title":"Overview of genetic testing in Prader-willi syndrome","authors":"Ying GAO, Mian-Lin ZHONG, Yang-Li DAI, Yong-Hui JIANG, Chao-Chun ZOU","doi":"10.1080/21678707.2023.2262104","DOIUrl":"https://doi.org/10.1080/21678707.2023.2262104","url":null,"abstract":"Introduction Prader-Willi syndrome (PWS) is a complicated neurodevelopmental genetic disorder stemming from the loss of expression of imprinted genes within the 15q11-q13 region. It is characterized by impaired hypothalamic development and function. Infants with PWS typically present hypotonia and feeding difficulties, which in later stages of childhood progress to hyperphagia, obesity, and endocrine dysfunctions. However, early diagnosis and treatment have proven effective in mitigating obesity and related co-morbidities in patients with PWS. Moreover, the precise molecular classification of PWS is crucial to tailor the appropriate treatment strategies and provide valuable genetic counseling.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"132 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135343612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-01DOI: 10.1080/21678707.2023.2241347
Federica Pisa, Ariel Arias, E. Bratton, M. Salas, J. Sultana
ABSTRACT Introduction Rare disease research has specific challenges that can be addressed using registries. Areas covered There are at least three different types of registries: patient registries, disease registries, and product registries. Patient registries recruit rare disease patients, potentially including several rare diseases within a registry, while disease registries can be considered a subset of patient registries which focus on specific diseases. Product registries focus on specific drugs. These registries may be used to conduct research that is specifically requested by a regulatory authority, they may be developed by a drug company to monitor the use of a particular drug or may be developed for public health monitoring purposes. Expert Opinion Compared to other sources of real-world data (RWD), such as electronic medical records (EMRs) and claims data, registries are more likely to have a correct diagnosis and more specific information about RDs. However, registries also have their challenges. Competition between registries may lead to missing or incomplete data. Registries could also have limited information on drug and medical history, which are better captured in EMRs or claims. Nevertheless, registries remain an important source of RWD in the rare disease space and are increasingly being leveraged to comply with regulatory requirements.
{"title":"Real world data for rare diseases research: The beginner’s guide to registries","authors":"Federica Pisa, Ariel Arias, E. Bratton, M. Salas, J. Sultana","doi":"10.1080/21678707.2023.2241347","DOIUrl":"https://doi.org/10.1080/21678707.2023.2241347","url":null,"abstract":"ABSTRACT Introduction Rare disease research has specific challenges that can be addressed using registries. Areas covered There are at least three different types of registries: patient registries, disease registries, and product registries. Patient registries recruit rare disease patients, potentially including several rare diseases within a registry, while disease registries can be considered a subset of patient registries which focus on specific diseases. Product registries focus on specific drugs. These registries may be used to conduct research that is specifically requested by a regulatory authority, they may be developed by a drug company to monitor the use of a particular drug or may be developed for public health monitoring purposes. Expert Opinion Compared to other sources of real-world data (RWD), such as electronic medical records (EMRs) and claims data, registries are more likely to have a correct diagnosis and more specific information about RDs. However, registries also have their challenges. Competition between registries may lead to missing or incomplete data. Registries could also have limited information on drug and medical history, which are better captured in EMRs or claims. Nevertheless, registries remain an important source of RWD in the rare disease space and are increasingly being leveraged to comply with regulatory requirements.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"1 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44313414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-13DOI: 10.1080/21678707.2023.2217328
E. Marsh, A. Beisang, T. Buie, T. Benke, Brian Gaucher, K. Motil
ABSTRACT Background Trofinetide is a recently approved treatment for Rett syndrome (RTT), a rare neurodevelopmental disorder with no previously approved therapy. The phase 3 LAVENDER trial showed improvements in efficacy measures compared with placebo, but diarrhea rates were high in trofinetide-treated participants. To manage possible diarrhea, recommendations that can be used by health care providers are needed. Research design and methods Additional analyses were conducted on LAVENDER data to elucidate predictors of trofinetide-associated diarrhea. A panel of advisors was convened to refine a set of practical recommendations for the prevention and management of diarrhea in individuals with RTT treated with trofinetide. Results No examined demographic or treatment factors appeared to influence trofinetide-associated diarrhea. Advisors recommend establishing baseline bowel activity and providing caregivers with diarrhea management information. On initiation of trofinetide, constipation medications should be stopped or reduced, concomitant liquid medications with sugar alcohols should be substituted if possible, and fiber should be initiated. Bowel movements should be tracked and loperamide started following the onset of diarrhea. Dietary and hydration measures are also recommended. Conclusions Trofinetide treatment confers improvements in RTT-related symptoms. With these recommendations, diarrhea associated with trofinetide use can be managed, enhancing the lives of individuals with RTT and caregivers.
{"title":"Recommendations for the management of diarrhea with trofinetide use in Rett syndrome","authors":"E. Marsh, A. Beisang, T. Buie, T. Benke, Brian Gaucher, K. Motil","doi":"10.1080/21678707.2023.2217328","DOIUrl":"https://doi.org/10.1080/21678707.2023.2217328","url":null,"abstract":"ABSTRACT Background Trofinetide is a recently approved treatment for Rett syndrome (RTT), a rare neurodevelopmental disorder with no previously approved therapy. The phase 3 LAVENDER trial showed improvements in efficacy measures compared with placebo, but diarrhea rates were high in trofinetide-treated participants. To manage possible diarrhea, recommendations that can be used by health care providers are needed. Research design and methods Additional analyses were conducted on LAVENDER data to elucidate predictors of trofinetide-associated diarrhea. A panel of advisors was convened to refine a set of practical recommendations for the prevention and management of diarrhea in individuals with RTT treated with trofinetide. Results No examined demographic or treatment factors appeared to influence trofinetide-associated diarrhea. Advisors recommend establishing baseline bowel activity and providing caregivers with diarrhea management information. On initiation of trofinetide, constipation medications should be stopped or reduced, concomitant liquid medications with sugar alcohols should be substituted if possible, and fiber should be initiated. Bowel movements should be tracked and loperamide started following the onset of diarrhea. Dietary and hydration measures are also recommended. Conclusions Trofinetide treatment confers improvements in RTT-related symptoms. With these recommendations, diarrhea associated with trofinetide use can be managed, enhancing the lives of individuals with RTT and caregivers.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2023-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45726541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-12-02DOI: 10.1080/21678707.2022.2153670
Y. Rusenova, S. Vandeva, A. Elenkova, G. Petrova, M. Kamusheva
ABSTRACT Background Acromegaly is a rare disease that significantly affects patients’ quality of life (QoL) – especially appearance, pain, depression, energy and vitality. The aim is to assess and compare the acromegaly patients’ QoL related to the type of pharmacotherapy using specific and generic QoL measuring instruments. Research design and methods A cross-sectional questionnaire-based study among 163 hospitalized acromegaly patients was conducted. QoL was measured by Acromegaly Quality of Life Questionnaire (AcroQol), Short-Form Health Survey (SF-36) and EQ-5D-3 L. Results Women had lower AcroQol values than men 50 vs. 66 (p < 0.05). Lower values for octreotide than octreotide + pegvisomant were found with all questionnaires: 57 vs. 67 AcroQol (p = 0.0405), 0.699 vs. 0.7586 EQ-5D (p = 0.0595) and 57.94 vs. 66.06 SF-36 scores (p > 0.093) . A significant correlation between AcroQoL, SF-36 and EQ-5D-3 L scores (rs> 0, р < 0.00001) was revealed. AcroQol, EQ-5D and SF-36 are reliable questionnaires applicable for Bulgarian population with acromegaly. Conclusion This pilot study confirmed that combination therapy which includes biological therapy is related to higher physical appearance AcroQol scores than nonbiological monotherapy – a conclusion which should be further confirmed.
{"title":"Quality of life of patients with acromegaly: comparison of different therapeutic modalities","authors":"Y. Rusenova, S. Vandeva, A. Elenkova, G. Petrova, M. Kamusheva","doi":"10.1080/21678707.2022.2153670","DOIUrl":"https://doi.org/10.1080/21678707.2022.2153670","url":null,"abstract":"ABSTRACT Background Acromegaly is a rare disease that significantly affects patients’ quality of life (QoL) – especially appearance, pain, depression, energy and vitality. The aim is to assess and compare the acromegaly patients’ QoL related to the type of pharmacotherapy using specific and generic QoL measuring instruments. Research design and methods A cross-sectional questionnaire-based study among 163 hospitalized acromegaly patients was conducted. QoL was measured by Acromegaly Quality of Life Questionnaire (AcroQol), Short-Form Health Survey (SF-36) and EQ-5D-3 L. Results Women had lower AcroQol values than men 50 vs. 66 (p < 0.05). Lower values for octreotide than octreotide + pegvisomant were found with all questionnaires: 57 vs. 67 AcroQol (p = 0.0405), 0.699 vs. 0.7586 EQ-5D (p = 0.0595) and 57.94 vs. 66.06 SF-36 scores (p > 0.093) . A significant correlation between AcroQoL, SF-36 and EQ-5D-3 L scores (rs> 0, р < 0.00001) was revealed. AcroQol, EQ-5D and SF-36 are reliable questionnaires applicable for Bulgarian population with acromegaly. Conclusion This pilot study confirmed that combination therapy which includes biological therapy is related to higher physical appearance AcroQol scores than nonbiological monotherapy – a conclusion which should be further confirmed.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"10 1","pages":"48 - 54"},"PeriodicalIF":0.8,"publicationDate":"2022-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44304585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-29DOI: 10.1080/21678707.2022.2152671
N. Deconinck, E. Devos
ABSTRACT Introduction Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 (survival motor neuron1) and results in the loss of motor neurons and progressive muscle weakness. The spectrum of disease severity ranges from early onset with respiratory failure during the first months of life to a milder, slower progressing adult-onset type. The field of SMA treatment has changed significantly over the last years from being a nearly untreatable condition to the marketing of 3 new therapeutic options and the possibility to diagnose the disease very early through newborn screening. Areas covered This article covers and summarizes the published articles of preclinical and clinical data on risdiplam, a new oral centrally and peripherally distributed SMN2 pre-mRNA splicing modifier, together with reviews of abstract of important scientific meetings that have been organized over the past 4 years. Expert opinion The favorable efficacy/safety profile allows risdiplam to address remaining still unmet needs in the recent era of new SMA therapies. In particular, the possibility to administer risdiplam orally at home will make of it an attractive treatment option across all SMA phenotypes. Long-term efficacy and safety are still under evaluation.
{"title":"Risdiplam as an orphan drug treatment of spinal muscular atrophy in adults and children (2 months or older)","authors":"N. Deconinck, E. Devos","doi":"10.1080/21678707.2022.2152671","DOIUrl":"https://doi.org/10.1080/21678707.2022.2152671","url":null,"abstract":"ABSTRACT Introduction Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 (survival motor neuron1) and results in the loss of motor neurons and progressive muscle weakness. The spectrum of disease severity ranges from early onset with respiratory failure during the first months of life to a milder, slower progressing adult-onset type. The field of SMA treatment has changed significantly over the last years from being a nearly untreatable condition to the marketing of 3 new therapeutic options and the possibility to diagnose the disease very early through newborn screening. Areas covered This article covers and summarizes the published articles of preclinical and clinical data on risdiplam, a new oral centrally and peripherally distributed SMN2 pre-mRNA splicing modifier, together with reviews of abstract of important scientific meetings that have been organized over the past 4 years. Expert opinion The favorable efficacy/safety profile allows risdiplam to address remaining still unmet needs in the recent era of new SMA therapies. In particular, the possibility to administer risdiplam orally at home will make of it an attractive treatment option across all SMA phenotypes. Long-term efficacy and safety are still under evaluation.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"10 1","pages":"65 - 72"},"PeriodicalIF":0.8,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47526001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-29DOI: 10.1080/21678707.2022.2153671
H. Ghiasvand, M. Barnish, Tayebeh Moradi, E. Nikram, S. Naghdi
ABSTRACT Objectives Rare diseases are recognized as non-prevalent health disorders. Availability, accessibility, and affordability of Orphan Drugs (ODs), alongside genetic testing, are the major contributors to ensuring no patient is excluded by the health system. Therefore, making ODs available and accessible has been a challenge even for high-income nations. This review aims to summarize the evidence on the availability and accessibility of orphan drugs and other required resources for managing rare diseases. Methods The Joanna Briggs Institute scoping review method was used as the analytical framework. We searched Medline, and Embase through Ovid, and Web of Science. We used Guilford et al. definition and classification of accessibility and its dimensions to synthesize the evidence. Results The majority of the final included evidence is about the financial, and then availability and physical accessibility to ODs. Furthermore, almost all the evidence comes from high-income countries. Conclusion The principal hurdles to the availability and accessibility of ODs and other related services are very high prices, lack of a legal framework, and budgetary impact on public funding. A lack of reimbursement mechanisms and lower availability of other resources are among other problems.
目的罕见病是公认的非流行健康疾病。孤儿药的可得性、可及性和可负担性，以及基因检测，是确保没有患者被卫生系统排除在外的主要因素。因此，即使是对高收入国家来说，使otc可获得和可获得也是一项挑战。这篇综述旨在总结关于孤儿药的可得性和可及性的证据以及管理罕见病所需的其他资源。方法采用乔安娜布里格斯研究所的范围审查法作为分析框架。我们搜索了Medline，通过Ovid和Web of Science搜索了Embase。我们使用Guilford等人对可达性及其维度的定义和分类来综合证据。结果最终纳入的证据主要是关于药品的财务状况，其次是药品的可得性和物质可及性。此外，几乎所有证据都来自高收入国家。ODs和其他相关服务的可用性和可及性的主要障碍是价格过高、缺乏法律框架以及对公共资金的预算影响。其他问题包括缺乏偿还机制和其他资源较少。
{"title":"Making orphan drugs and services available and accessible for people who live with rare diseases: what has been done? a systematic scoping review","authors":"H. Ghiasvand, M. Barnish, Tayebeh Moradi, E. Nikram, S. Naghdi","doi":"10.1080/21678707.2022.2153671","DOIUrl":"https://doi.org/10.1080/21678707.2022.2153671","url":null,"abstract":"ABSTRACT Objectives Rare diseases are recognized as non-prevalent health disorders. Availability, accessibility, and affordability of Orphan Drugs (ODs), alongside genetic testing, are the major contributors to ensuring no patient is excluded by the health system. Therefore, making ODs available and accessible has been a challenge even for high-income nations. This review aims to summarize the evidence on the availability and accessibility of orphan drugs and other required resources for managing rare diseases. Methods The Joanna Briggs Institute scoping review method was used as the analytical framework. We searched Medline, and Embase through Ovid, and Web of Science. We used Guilford et al. definition and classification of accessibility and its dimensions to synthesize the evidence. Results The majority of the final included evidence is about the financial, and then availability and physical accessibility to ODs. Furthermore, almost all the evidence comes from high-income countries. Conclusion The principal hurdles to the availability and accessibility of ODs and other related services are very high prices, lack of a legal framework, and budgetary impact on public funding. A lack of reimbursement mechanisms and lower availability of other resources are among other problems.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"10 1","pages":"55 - 64"},"PeriodicalIF":0.8,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41689842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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