Clinical Research for Rare Diseases: Opportunities, Challenges, and Solutions

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）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，并有望吸引实习生和初级教师进入这一重要领域。这项R13基金计划举办一个名为“罕见病临床研究：机遇、挑战和解决方案”的会议，为学员和初级教师提供信息和资源，他们可以直接应用于他们的工作和职业发展。该提案有三个具体目标：1)为处于职业生涯早期的研究人员举办罕见病研究方法会议；2)开发可更新的罕见病方法学在线课程；3)提供支持，扩大能够参加研究方法会议的学员人数。拟议的会议形式是一整天的课程，由简短的教学讲座组成，每个讲座之后都有充足的提问时间，以及与与会者当前职业和研究发展阶段相关的重点领域的小组讨论。将解决的问题包括：1)招募策略；2)研究设计和处理少数受试者的生物统计学；3)保持罕见疾病参与者的匿名性；4)人口统计和登记数据的使用；5)开发孤儿产品的途径；6)与患者倡导团体和行业合作。此外，还会有海报展示的机会，让学员可以互相分享，并与RDCRN的高级研究员分享他们目前的研究成果，并获得反馈。最后一个环节将是晚宴，由美国国家人类基因组研究所所长、罕见病研究的倡导者弗朗西斯·柯林斯博士发表主旨演讲。RDCRN指导委员会的所有成员（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）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。如果这次会议取得成功，我们计划在未来的RDCRC会议上举行类似的会议。

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) is the ideal group to sponsor a conference addressing rare disease research methodology that would supplement general training in clinical research and hopefully attract trainees and junior faculty into this important field. This R13 grant proposes to hold a conference entitled "Clinical Research for Rare Diseases: Opportunities, Challenges, and Solutions" that will provide information and resources to trainees and junior faculty that they can directly apply to their work and career development. This proposal has three specific aims: 1) Hold a conference on rare disease research methodology for investigators early in their career; 2) Develop a renewable on-line curriculum for rare disease methodology; 3)Provide support to expand the number of trainees able to attend the research methods conference. The proposed conference format is of a full day program made up of short didactic lectures, each followed by ample time for questions, 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) recruitment strategies, 2) study design and biostatistics in dealing with small number of subjects, 3) maintaining participant anonymity with rare diseases, 4) use of demographic and registry data, 5) pathways for developing orphan products, and 6) working with patient advocacy groups and with industry. There will also be the opportunity for 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 Dr. Francis Collins, Director of the National Human Genome Research Institute, and a champion of rare disease research. All members of the RDCRN Steering Committee (Consortia PIs, NIH program officials from multiple institutes, and patient advocacy group representatives) 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. If this conference proves successful, we plan on having similar sessions attached to future RDCRC meetings.