Rare Diseases - Avoiding Misperceptions and Establishing Realities: The Need for Reliable Epidemiological Data
Rare Diseases - Avoiding Misperceptions and Establishing Realities: The Need for Reliable Epidemiological Data
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DOI：
10.1007/978-90-481-9485-8_1
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发表时间：
2010-01-01
期刊：
影响因子：
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通讯作者：
Posada de la Paz, Manuel
中科院分区：
文献类型：
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作者：
Groft, Stephen C.;Posada de la Paz, Manuel
罕见病界缺乏关于罕见病在国家和全球人口中流行率和发病率的可靠流行病学数据。罕见病社区包括所有参与罕见病诊断、预防或治疗产品和信息研发和传播的利益相关者。为了用现实取代许多被认为的神话，如果我们要维持和增加报告的数千种罕见疾病的进展，就需要做出一些全球努力。一个是确定和扩大全球伙伴关系和患者倡导团体对个别罕见疾病的合作。另一项要求是建立一个由合格研究人员组成的全球研究基础设施，通过寻求各种途径，利用共同的协议和多学科研究团队，在多国研究地点提供临床试验，以促进和协调研究工作。提供有关罕见疾病、患者倡导团体、研究和研究方案中产品的信息将继续改善患者及其家属的生活。许多科学家、公共和私营部门组织、患者倡导团体、基金会以及制药、生物技术和医疗器械行业都致力于转化研究发现，这些发现将有助于罕见疾病患者的终生护理。来自精心构建的流行病学研究的证据将提供证据，表明额外的临床研究对增加对罕见疾病的理解的价值。
The rare disease community suffers from the absence of reliable epidemiological data on the prevalence and incidence of rare diseases in the national and global populations. The rare diseases community includes all of the stakeholders involved in the research and development and dissemination of products and information for the diagnosis, prevention or treatment of rare diseases or conditions. To replace many of the perceived myths with realities, several global efforts are required if we are going to sustain and increase the reported progress with the thousands of rare diseases. One is the identification and expansion of worldwide partnerships and collaborations of Patient Advocacy Groups for individual rare diseases. Another requirement is to develop a global research infrastructure of qualified investigators to stimulate and coordinate research efforts by seeking ways to provide access to clinical trials at multi-national research sites with common protocols and multi-disciplinary research teams. Providing ready access to the information about rare diseases, patient advocacy groups, research studies and products in research protocols will continue to improve the lives of patients and their families. Many scientists, public and private sector organizations, patient advocacy groups, foundations, and the pharmaceutical, biotechnology, and medical devices industries are committed to translating research discoveries that will be useful in the care of patients with rare diseases over their lifespan. Evidence from well constructed epidemiological studies will provide the evidence that point to the value of additional clinical studies to increase the understanding of rare diseases.