Rare disease and orphan drugs journal最新文献

{"title":"Rare diseases: specific challenges for sustainable accessibility of treatments for patients","authors":"Lucas Cortial, Pierre-Olivier Boyer, Sylvain Forget, Ronan Le Joubioux, O. Blin, F. Mouthon","doi":"10.20517/rdodj.2022.08","DOIUrl":"https://doi.org/10.20517/rdodj.2022.08","url":null,"abstract":"In late 2021, the health technology assessment of the French National Authority for Health was seized by the French Ministry of Solidarity and Health to address a specific challenge, the identification of solutions contributing to the development of the methodological expertise in new types of clinical studies for rare diseases. Experts from the rare diseases environment were gathered by OrphanDev, the French network of expertise dedicated to rare diseases. They allowed to identify some of the current issues in France concerning rare diseases, and then present different solutions, in particular related to the evaluation process of orphan drugs and the collection of data on rare diseases.","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67659104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enzyme replacement therapy: current challenges and drug delivery prospects via extracellular vesicles","authors":"A. Silva, C. Sagné, F. Gazeau, I. Abasolo","doi":"10.20517/rdodj.2022.09","DOIUrl":"https://doi.org/10.20517/rdodj.2022.09","url":null,"abstract":"","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67659124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Managing rare diseases: examples of national approaches in Europe, North America and East Asia","authors":"Lucas Cortial, Catherine Nguyen, Daria Julkowska, Florence Cocqueel-Tiran, A. M. Moliner, Olivier Blin, Valérie Trentesaux","doi":"10.20517/rdodj.2022.02","DOIUrl":"https://doi.org/10.20517/rdodj.2022.02","url":null,"abstract":"Around 4% of the global population suffers from a rare disease. Apart from the medical aspect, economic, organisational, and political approaches remain key aspects when it concerns the evolution of the world of rare diseases. We review here the principal specific national initiatives and organisations in Europe, North America and East Asia. Thereafter, we propose the outlines of a possible optimal approach, inspired by the successes of the individual national organisations. This work should be taken into account in the definition of large scale multi-national rare diseases programs, such as the European Joint Programme on Rare Diseases.","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67659440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Foundation for Rare Diseases Annual Scientific Conference: Colloque Scientifique Annuel 2022","authors":"","doi":"10.20517/rdodj.2022.10","DOIUrl":"https://doi.org/10.20517/rdodj.2022.10","url":null,"abstract":"","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"68 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67659604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeting neutrophil serine proteinases in alpha-1 antitrypsin deficiency","authors":"Celine H. Chen, R. Stockley","doi":"10.20517/rdodj.2022.18","DOIUrl":"https://doi.org/10.20517/rdodj.2022.18","url":null,"abstract":"Alpha-1 antitrypsin (AAT) is the most abundant irreversible serine proteinase inhibitor in the circulation and plays a major role in protecting lung tissue against destruction from neutrophil serine proteinases. Genetic mutation of AAT leads to reduced circulating levels and AAT deficiency (AATD) which is associated with an increased risk of developing emphysema. This observation suggests that the balance between AAT and neutrophil serine proteinase is crucial in maintaining tissue homoeostasis. In AATD, the overexuberant proteinase activity resulting from inadequate AAT control creates a self-perpetuating inflammatory cycle, driving progressive tissue injury. Re-establishing this physiological balance is therefore critical for preserving lung architecture, function, and abrogating disease progression. Several avenues within this pathophysiological pathway are being explored. This chapter addresses the pathophysiological process, current treatments targeting the pathway, and alternative approaches within the pathway that can potentially mitigate proteinase imbalance.","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67659693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient engagement in healthcare: a preliminary set of measures to evaluate patient engagement in the European Reference Networks.","authors":"D. Marinello, I. Galetti, D. Dan, Ammi Sundqvist Andersson, Silvia Aguilera, S. Louisse, L. Wiehe, Anne-Laure Aslanian, Ines Hernando Martin","doi":"10.20517/RDODJ.2021.001","DOIUrl":"https://doi.org/10.20517/RDODJ.2021.001","url":null,"abstract":"Aim: The European Reference Networks (ERNs) provide clinicians and patients the opportunity to collaborate at EU level to improve diagnosis, care and treatment for people living with rare and complex conditions. However, building a partnership culture to systematically involve patients in ERN activities and decision-making structures is challenging, partly because the role of patient representatives and the value of this collaboration are not always understood. The objective of this project was to develop an evaluation framework to assess the impact of patient engagement in the ERNs and to provide evidence on the value of patient-clinician partnership. Methods: The evaluation was developed by EURORDIS and patient representatives involved in the ERNs (ePAG advocates) through a participatory and iterative process. The work was organised in three different phases: (1) clarify roles and identify common goals for ePAG advocates’ engagement in the ERNs; (2) define a set of measures; and (3) test the measures in three different ePAGs (European Patient Advocacy Groups). Results: The project allowed developing a common understanding among ePAG advocates of their role and goals in the ERNs and defining a patient-driven evaluation framework to assess their level of engagement in the ERNs’ activities and how effectively they were working to fulfil their role. Conclusion: Engaging with ERN clinicians to refine the framework would probably render it more relevant to the reality and priorities of the specific ERNs and more valuable as a tool to build a strong partnership culture. Such an evaluation framework could be integrated into the ERNs’ quality improvement system to ensure that the networks’ activities are driven by and remain responsive to patients’ needs.","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43538234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The dynamic and urgent path of rare disease and orphan drug research","authors":"D. Scherman","doi":"10.20517/RDODJ.2021.01","DOIUrl":"https://doi.org/10.20517/RDODJ.2021.01","url":null,"abstract":"© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The dynamic and urgent path of rare disease and orphan drug research","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67659267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"IRDiRC: 1000 new rare diseases treatments by 2027, identifying and bringing forward strategic actions","authors":"V. Hivert, A. Jonker, Daniel O’Connor, D. Ardigò","doi":"10.20517/rdodj.2021.02","DOIUrl":"https://doi.org/10.20517/rdodj.2021.02","url":null,"abstract":"In 2017, the International Rare Diseases Research Consortium (IRDiRC) set out ambitious goals, one of which specifically aimed to stimulate the development and approval of 1000 new therapies for rare diseases by 2027. This goal was part of IRDiRC’s concerted efforts to foster research and provide better diagnostics and care options for the estimated 400 million patients suffering from the more than 6000 rare diseases (RD) worldwide. Lack of therapeutic options for rare disease patients is an urgent issue. Treatments are estimated to be available for less than 6% of RD conditions, and fewer than 50 new therapies per year are approved by regulatory agencies worldwide, leaving a major discrepancy between patient needs and therapeutic solutions. This paper describes the recent key steps the IRDiRC Therapies Scientific Committee (TSC) has taken to support the future approval of 1000 new therapies, namely Step 1 (conducting a gap analysis of the rare diseases drug development landscape) and Step 2 (developing strategic themes to advance IRDiRC Goal 2 and act upon them). The IRDiRC TSC created a multi-stakeholder group to run a gap analysis of the RD drug development field. The analysis identified four main priority needs: (1) the definition of a new master plan for RD medicines suitable for all developers (large and small pharmaceutical companies, academics, and not-for-profit organizations) incorporating stakeholders’ perspectives and best practices in the field to increase efficiency in the development and registration of innovative drugs and generate more value for patients and the healthcare system; (2) the elicitation of a research framework and business model for repurposing of existing drugs for RD indications to enact a quantum enlargement of the existing Page 2 of Hivert et al. Rare Dis Orphan Drugs J 2021;1:3 https://dx.doi.org/10.20517/rdodj.2021.02 8 therapeutic armamentarium; (3) the definition of standards and practices for data collection in healthcare practice and their implementation in drug development to provide real-world evidence; and (4) the re-focusing of the current international RD research agenda pushing for concentrated research efforts and funding in support of the development of future treatments. In addition to identifying where efforts should be put, the TSC has concretely contributed to advance the IRDiRC goal by creating tools (e.g., the Orphan Drug Development Guidebook) and recommendations and making them available to the whole RD community. However, much remains to be done, and the TSC has refined its approach to incorporate progress made and reflect on new challenges.","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67659308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COVID-19 and rare diseases: reflections and recommendations by the International Rare Diseases Research Consortium","authors":"C. M. Wang, Daria Julkowska, Chun‐Hung Chan, David A. Pearce, Lucia Monaco","doi":"10.20517/rdodj.2021.03","DOIUrl":"https://doi.org/10.20517/rdodj.2021.03","url":null,"abstract":"Aim: The ambitious goals set by the International Rare Diseases Research Consortium (IRDiRC) by 2027 to fulfill the vision of providing diagnosis and treatments to rare diseases (RDs) patients within one year of coming to medical attention have been challenged by the COVID-19 pandemic. This article aims to identify the needs and challenges of the RD community during the COVID-19 pandemic and to understand whether the pandemic would hinder achievement of the IRDiRC goals. Methods: A survey was developed in 2020 to answer key issues related to the potential impact of the pandemic on RD research and distributed to all 96 IRDiRC Constituent Committee members and Scientific Committee experts. Results: The overall participation rate was 46%, with the highest response rates from the Patient Advocates, Funders, and Therapies Committees. Most respondents reported impacts on various aspects of RD research including decreased access to healthcare, clinical trials, and diagnostics for patients, as well as disrupted operations for patient and funding organizations and restrictions in access to workplaces for researchers. Despite these challenges, there was overall optimism that the IRDiRC goals could still be met by 2027, although there would be an inevitable slowdown in RD research activities. Conclusions: Maintaining funding for RD research and implementing new workflows to ensure that patients have continued access to diagnostics, therapies, and clinical trials will be key to ensuring that IRDiRC meets it goals by 2027.","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"27 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67659318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Off-label prescription of medicines: what do we know about the legislation in EU member states?","authors":"Renske Caminada, Max Polano, A. Pasmooij, V. Stoyanova-Beninska","doi":"10.20517/rdodj.2021.04","DOIUrl":"https://doi.org/10.20517/rdodj.2021.04","url":null,"abstract":"Aim: Off-label prescription is not regulated on the European Union (EU) level and therefore not harmonised in the EU Member States (MS). Despite this, the use of medicines outside of the drug label occurs in clinical practice, and it can be included in treatment guidelines and/or reimbursed in some cases. It is, however, currently not clear to what extent off-label use can be included in regulatory discussions at a European level at the different committees at the European Medicines Agency. In this article, we provide an overview of the current legislation on MS level regarding off-label prescription in order to support EU regulatory discussions. Methods: Relevant national legislation regarding off-label prescription from MS was identified by distributing a questionnaire to EMACOLEX. Case law was excluded. The identified categorical elements and prerequisites in the national legislation were then categorised. Subsequently, a comparison was made to the five Good Off-Label Use Practice (GOLUP) principles. Results: Based on the obtained responses from 10 MS, we observed a large heterogeneity in the legislation of MS regarding off-label prescription. Five (out of 10) MS regulate off-label prescription explicitly and seven (out of 10) MS have prerequisites. One or more prerequisites per MS were reflected in the GOLUP principles as formulated in 2017. Conclusion: The main contribution of this work is to flag that off-label prescription actually needs to be well defined and understood before it can be appropriately taken into consideration in regulatory discussions. There is a heterogeneity in legislation regarding off-label prescription in the investigated MS, which may lead to different perspectives. A common understanding of the concept and more alignment in off-label prescription practices and their regulation at MS level may contribute to further regulatory discussions.","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67659354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}