Conference on Clinical Research for Rare Diseases

描述（由申请人提供）：有超过6,000种疾病被归类为“罕见”（定义为在美国患病率<200,000人）。虽然这些实体单独不常见，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，但医学的许多基本进展都来自对罕见病的研究，这些研究使常见疾病受益。由于目前治疗方法不足，以及治疗常见和罕见疾病的潜力，对罕见病进行临床研究至关重要。为了保证这一研究的未来，培养这一领域的下一代研究者是很重要的。美国国立卫生研究院罕见病临床研究网络（RDCRN, www.RareDiseasesNetwork.org）和美国国立卫生研究院临床和转化科学奖励计划是赞助罕见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，并吸引实习生和初级教师进入这一重要领域。2007年，rdrcrn召开了首届“罕见病临床研究会议”。本次会议在R13基金的支持下取得了巨大的成功，吸引了200名与会者，完成了组委会和NIH赞助商的所有目标，并在评估中获得了出色的分数。这项R13拨款计划用于支持2010年和2012年的“罕见病临床研究会议”。这些会议将向受训人员和初级教员提供信息和资源，他们可以直接将这些信息和资源应用于他们的工作和职业发展。拟议的会议形式是一整天的课程，由简短的教学讲座和小组讨论组成，讨论与与会者当前职业和研究发展阶段相关的重点领域。将讨论的问题包括：1)建立研究网络，2)研究设计和处理少量受试者的生物统计学，3)利用CTSA项目进行罕见病研究，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)罕见病研究中患者权益团体的角色；还有职业建议。此外，还会有海报展示，学员们可以互相分享，也可以与RDCRN的高级研究员分享他们目前的研究成果，并获得反馈。最后一个环节是晚宴，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（联盟pi，来自多个研究所的NIH项目官员和患者倡导团体代表）以及CTSA项目的研究人员将参加会议。将会有一个评估部分，参与者将填写一份表格，表明在实现我们的目标方面的成功程度。最后，会议记录将在网上公布，并发表一篇摘要文章。

DESCRIPTION (provided by applicant): 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. PUBLIC HEALTH RELEVANCE: The proposed conference will provide trainees and junior faculty engaged in clinical investigation in rare diseases with practical education in research methodologies specifically focused on studying rare disorders. By encouraging and assisting young clinical investigators involved in rare disease research, this conference will not only promote discovery of new insights into pathophysiology and treatment of rare diseases, but also result in all of the collateral benefits to general medical science and public health that rare disease research has provided throughout history.