Conference on Clinical Research for Rare Diseases

项目摘要/摘要 有6,000多种疾病被归类为罕见(定义为在美国的流行率为200,000人)。虽然就个人而言，这些实体并不常见，但作为一个群体，它们是导致儿童和成人慢性病、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步都来自对罕见疾病的研究，这些进步使常见疾病受益。由于目前治疗不充分，以及有可能帮助常见和罕见疾病，开展罕见疾病的临床研究至关重要。为了保证这项研究的未来，这一领域的下一代调查人员的培训是重要的。 美国国立卫生研究院罕见疾病临床研究网络(RDCRN，www.RareDiseasesNetwork.org)和美国国立卫生研究院临床和翻译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，并吸引受训人员和初级教员进入这一重要领域。 2007年，RDCRN举办了首届罕见病临床研究会议。这次会议在R13拨款的支持下取得了巨大的成功，吸引了200名与会者，实现了组委会和NIH赞助商的所有目标，并在评估中获得了优异的分数。 这笔R13赠款建议支持2010和2012年的罕见疾病临床研究会议。这些会议将为学员和初级教员提供信息和资源，他们可以直接应用于自己的工作和职业发展。 拟议的会议形式是一个全天的项目，由简短的说教讲座和小组讨论组成，主题是与与会者S目前的职业生涯和研究发展阶段相关的重点领域。将解决的问题包括：1)创建研究网络，2)研究设计和生物统计学，以处理少数主题，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)与业界合作，6)罕见疾病研究中的利益冲突，7)患者权益倡导团体在罕见疾病研究中的作用；8)职业建议。还将举行海报演示，以便受训者彼此分享他们目前的研究成果，并与RDCRN的高级调查人员分享并获得反馈。最后一次会议将是一场晚宴，由一位著名的临床科学家发表主旨演讲。RDCRN指导委员会的成员(财团PI、来自多个研究所的NIH计划官员和患者权益团体代表)以及CTSA计划内的调查人员将参加会议。将有一个评估部分，参与者将填写一张表格，说明实现我们目标的成功程度。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.