Conference on Clinical Research for Rare Diseases

项目总结/摘要 有超过6,000种疾病被归类为“罕见”（定义为在美国的患病率<20万人）。虽然这些个体并不常见，但作为一个群体，它们是儿童和成人慢性疾病、残疾和过早死亡的重要原因。尽管罕见，但医学上的许多根本性进展都来自对罕见疾病的研究，这些研究使常见疾病受益。由于目前治疗不足以及对常见和罕见疾病的潜在帮助，对罕见疾病进行临床研究至关重要。为了确保这项研究的未来，对该领域下一代研究人员的培训非常重要。 NIH罕见疾病临床研究网络（RDCRN，www.RareDiseasesNetwork.org）和NIH临床和转化科学奖计划是赞助罕见疾病研究方法会议的理想团体，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举办了首届罕见疾病临床研究会议。这次会议，由R13赠款支持是一个巨大的成功，吸引了200名与会者，实现了组委会和NIH赞助商的所有目标，并收到了优异的评价分数。 这项R13赠款提议支持2010年和2012年的罕见疾病临床研究会议。这些会议将提供信息和资源，学员和初级教师，他们可以直接应用到他们的工作和职业发展。 拟议的会议形式是一个全天计划，由简短的教学讲座和小组讨论组成，重点领域与与会者当前的职业和研究发展阶段有关。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计划进行罕见病研究，4）开发孤儿产品的途径，5）与行业合作，6）罕见病研究中的利益冲突，7）患者倡导团体在罕见病研究中的作用;（8）职业建议。也将有海报演示，使学员可以相互分享，并与RDCRN的高级研究人员分享他们目前的研究，并获得反馈。最后一次会议将是一个晚宴，由一位著名的临床科学家发表主题演讲。RDCRN指导委员会成员（来自多个研究所的联盟PI，NIH项目官员和患者倡导团体代表）以及CTSA项目内的研究人员将参加会议。将有一个评估部分，参与者将填写一份表格，说明在实现我们的目标方面取得的成功。最后，会议记录将在网上公布，并将发表一篇摘要文章。

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.