Expert Opinion on Orphan Drugs最新文献

Emerging therapies against Naegleria fowleri 针对奈格勒氏菌的新疗法

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2024-07-31 DOI: 10.1080/21678707.2024.2383173

Ruqaiyyah Siddiqui, David Lloyd, Ahmad M. Alharbi, Naveed Ahmed Khan

引用次数: 0

Current and emerging therapies for the treatment of leishmaniasis 治疗利什曼病的现有疗法和新兴疗法

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2024-03-25 DOI: 10.1080/21678707.2024.2335248

Shyam Sundar, Jitendra Singh, Vishal Kumar Singh, Neha Agrawal, Rajiv Kumar

引用次数: 0

The Orphan Drug Act and rare cancers: a retrospective analysis of oncologic orphan drug designations and associated approvals from 1983-2022 孤儿药法案》与罕见癌症：1983-2022 年肿瘤孤儿药指定及相关批准的回顾性分析

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2024-03-20 DOI: 10.1080/21678707.2024.2333245

Abraham Viju Ipe, Lewis J. Fermaglich, Selma Kraft, Catherine Mease, Tran Le, Kathleen L. Miller

引用次数: 0

Orphan drugs approved in Canada: health technology assessment, price negotiation, and government formulary listing 加拿大批准的 "孤儿药"：卫生技术评估、价格谈判和政府处方集列表

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2024-02-02 DOI: 10.1080/21678707.2024.2313766

Nigel S B. Rawson, John Adams

引用次数: 0

Overview of genetic testing in Prader-willi syndrome 普瑞德-威利综合征基因检测综述

4区医学

Expert Opinion on Orphan Drugs Pub Date : 2023-09-28 DOI: 10.1080/21678707.2023.2262104

Ying GAO, Mian-Lin ZHONG, Yang-Li DAI, Yong-Hui JIANG, Chao-Chun ZOU

引用次数: 0

Real world data for rare diseases research: The beginner’s guide to registries 罕见病研究的真实世界数据：注册初学者指南

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2023-08-01 DOI: 10.1080/21678707.2023.2241347

Federica Pisa, Ariel Arias, E. Bratton, M. Salas, J. Sultana

{"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}

引用次数: 0

Recommendations for the management of diarrhea with trofinetide use in Rett syndrome 使用曲非肽治疗Rett综合征腹泻的建议

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2023-06-13 DOI: 10.1080/21678707.2023.2217328

E. Marsh, A. Beisang, T. Buie, T. Benke, Brian Gaucher, K. Motil

{"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}

引用次数: 0

Quality of life of patients with acromegaly: comparison of different therapeutic modalities 肢端肥大症患者的生活质量:不同治疗方式的比较

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2022-12-02 DOI: 10.1080/21678707.2022.2153670

Y. Rusenova, S. Vandeva, A. Elenkova, G. Petrova, M. Kamusheva

{"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}

引用次数: 0

Risdiplam as an orphan drug treatment of spinal muscular atrophy in adults and children (2 months or older) 利斯地普兰作为孤儿药治疗成人和儿童(2个月或以上)脊髓性肌萎缩症

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2022-11-29 DOI: 10.1080/21678707.2022.2152671

N. Deconinck, E. Devos

{"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}

引用次数: 0

Making orphan drugs and services available and accessible for people who live with rare diseases: what has been done? a systematic scoping review 为罕见病患者提供孤儿药物和服务：已经做了什么？系统的范围审查

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2022-11-29 DOI: 10.1080/21678707.2022.2153671

H. Ghiasvand, M. Barnish, Tayebeh Moradi, E. Nikram, S. Naghdi

{"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}

引用次数: 1