Conference on Clinical Research for Rare Diseases

罕见病临床研究会议

• 批准号: 8245565
• 负责人: Peter A Merkel
• 金额: $ 8.3万
• 依托单位: UNIVERSITY OF PENNSYLVANIA
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-04-01 至 2013-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8245565
• 关键词: Address; Adult; Area; Award; Biometry; Cessation of life; Child; Chronic Disease; Clinical; Clinical Investigator; Clinical Research; Clinical Sciences; Clinical Trials; Clinical and Translational Science Awards; Communities; Conflict of Interest; Disease; Education; Educational Curriculum; Epigenetic Process; Evaluation; Faculty; Feedback; Functional disorder; Future; Goals; Grant; Healthcare; Human Genome; Industry; Institutes; Internet; Medical; Medicine; Methodology; Modification; Muscular Dystrophies; National Center for Research Resources; National Human Genome Research Institute; Orphan; Participant; Pathway interactions; Persons; Prevalence; Public Health; Publications; Publishing; Rare Diseases; Recording of previous events; Research; Research Design; Research Methodology; Research Personnel; Research Training; Resources; Role; Schedule; Science; Scientist; Staging; Time; Training; Translational Research; United States; United States National Institutes of Health; Work; career; career development; disability; insight; lectures; member; next generation; patient advocacy group; posters; premature; programs; research and development; success; symposium; working group

PROJECT SUMMARY/ABSTRACT There are more than 6,000 diseases classified as ¿rare¿ (defined as having a prevalence in the United States of <200,000 persons). While individually these entities are uncommon, as a group they are an important cause of chronic illness, disability and premature death in both children and adults. Despite their rarity, many fundamental advances in medicine have come from the study of rare diseases and these have benefited common diseases. Both because of currently inadequate therapy and the potential to assist common as well as rare disorders, the conduct of clinical research in rare diseases is essential. In order to assure the future of this research, the training of the next generation of investigators in this field is important. The NIH Rare Diseases Clinical Research Network (RDCRN, www.RareDiseasesNetwork.org) and the NIH Clinical and Translational Science Award Program are the ideal groups to sponsor a conference addressing rare diseases research methodology that would supplement general training in clinical research and attract trainees and junior faculty into this important field. In 2007 the RDCRN held the inaugural ¿Conference on Clinical Research for Rare Diseases¿. This Conference, supported by an R13 grant was a tremendous success, attracted 200 attendees, fulfilled all the goals of the Organizing Committee and NIH sponsors, and received outstanding scores on evaluations. This R13 grant proposes to support the ¿Conference on Clinical Research for Rare Diseases¿ in 2010 and 2012. These Conferences will provide information and resources to trainees and junior faculty that they can directly apply to their work and career development. The proposed conference format is of a full day program made up of short didactic lectures and panel discussions on focused areas relevant to the attendee¿s current stage of career and research development. The issues that will be addressed include: 1) creating research networks, 2) study design and biostatistics in dealing with a small number of subjects, 3) utilizing the CTSA program for rare diseases research, 4) pathways for developing orphan products, 5) working with industry, 6) conflict of interest in rare diseases research, 7) the roles of patient advocacy groups in rare diseases research; ; and 8) career advice. There will also be poster presentations, so that trainees can share with each other and with senior investigators of the RDCRN their current research and receive feedback. The final session will be a dinner with a keynote address given by a prominent clinical scientist. Members of the RDCRN Steering Committee (Consortia PIs, NIH program officials from multiple institutes, and patient advocacy group representatives) as well as investigators within the CTSA Program will participate in the conference. There will be an evaluation component where participants will fill out a form indicating the level of success in achieving our goals. Finally, the proceedings will be posted on the web and a summary article will be published.

项目概要/摘要 有超过 6,000 种疾病被归类为 ¿稀有的（定义为在美国的患病率<200,000 人）虽然这些实体并不常见，但作为一个群体，它们是儿童和成人慢性病、残疾和过早死亡的重要原因。医学的根本性进步来自对罕见疾病的研究，这些进步使常见疾病受益，因为目前的治疗方法不足，并且有可能帮助常见和罕见疾病，因此对罕见疾病进行临床研究至关重要。为了保证这项研究的未来，培训该领域的下一代研究人员非常重要。 NIH 罕见病临床研究网络（RDCRN，www.RareDiseasesNetwork.org）和 NIH 临床和转化科学奖励计划是赞助讨论罕见病研究方法的会议的理想团体，该会议将补充临床研究的一般培训并吸引学员和初级教师进入这一重要领域。 2007 年，RDCRN 举办了首届 ¿罕见病临床研究会议¿此次会议在R13资助的支持下取得了巨大成功，吸引了200名与会者，实现了组委会和NIH赞助商的所有目标，并在评估中获得了优异的成绩。 此 R13 拨款提案支持 ¿罕见病临床研究会议¿ 2010 年和 2012 年举行。这些会议将为学员和初级教师提供可直接应用于工作和职业发展的信息和资源。 拟议的会议形式是一整天的计划，由简短的教学讲座和与与会者相关的重点领域的小组讨论组成。当前阶段的职业和研究发展将解决的问题包括：1）创建研究网络，2）处理少数受试者的研究设计和生物统计学，3）利用 CTSA 计划进行罕见疾病研究，4 ）开发孤儿产品的途径，5）与行业合作，6）罕见疾病研究中的利益冲突，7）患者倡导团体在罕见疾病研究中的作用；以及8）还会有海报展示。那个实习生可以相互分享并与 RDCRN 的高级研究人员分享他们当前的研究并获得反馈。来自多个机构和患者倡导团体代表）以及 CTSA 计划的研究人员将参加会议。会议将有一个评估部分，参与者将填写一份表格，表明实现我们目标的成功程度。诉讼程序将发布在将发布网络和摘要文章。