Therapeutics for Rare and Neglected Diseases - Science

自2009年5月开始实施TRND以来，已经开始了五个试点项目的工作。 选择试点项目是为了在招标之前建立程序，项目阶段、疾病类型和合作者各不相同。 五个试点项目包括： 1. 血吸虫病，一种被忽视的疾病 2. 遗传性包涵体肌病，一种罕见疾病 3. 尼曼-匹克C病，一种罕见的疾病 4. 镰状细胞病，一种罕见的疾病 5. 慢性淋巴细胞白血病，一种罕见的疾病 这些罕见或被忽视的适应症的治疗方法的开发已经并将继续涉及TRND执行和/或提供的以下领域的资源： 1. 药物化学 2. 药理学 3. 毒理学 4. 药代动力学/药效学药物代谢 5. 疗效 6. 化合物配制和放大 7. 监管科学以及与包括FDA在内的监管机构的互动 8. 根据需要进行早期人体临床试验 除了个别TRND试点项目的科学进展外，还开始了罕见疾病信息学、毒理学和新型疗效模型的技术/范式开发。 还继续在以下领域开展业务工作： 1. 确定TRND的管理并召开跨NIH工作人员咨询小组（TAG）会议。 2. 参加了许多会议，与公司，学术科学家，和个人从疾病社区有兴趣了解TRND。 3. 探索与RND中感兴趣的利益相关者的潜在伙伴关系，以寻求利用TRND活动的机会。 4. 制定TRND研究与开发提案请求，通过该请求为未来的研究提供资金。 5. 设计一个招标和相关的支持系统，使新的项目进入TRND管道。

Since TRND began in May 2009, work has begun on five pilot projects. The pilot projects were chosen to establish processes in advance of solicitation, with diversity of project stage, type of disease and collaborators. The five pilot projects include: 1. Schistosomiasis, a neglected disease 2. Hereditary Inclusion Body Myopathy, a rare disease 3. Niemann-Pick C Disease, a rare disease 4. Sickle Cell Disease, a rare disease 5. Chronic Lymphocytic Leukemia, a rare disease The development of therapeutics for these rare or neglected indications has involved and will continue to involve resources in the following areas, performed and/or provided by TRND: 1. Medicinal chemistry 2. Pharmacology 3. Toxicology 4. Pharmacokinetics/pharmacodynamics drug metabolism 5. Efficacy 6. Compound formulation and scale-up 7. Regulatory science and interactions with regulatory agencies including FDA 8. Early stage human clinical trials, as needed In addition to scientific advancement on the individual TRND pilot projects, technology/paradigm development in rare diseases informatics, toxicology, and novel efficacy models was begun. Operational work also continued in the following areas: 1. Determining governance of TRND and holding meetings of the Trans-NIH Staff Advisory Group (TAG). 2. Participating in numerous meetings with companies, academic scientists, and individuals from disease communities interested in learning about TRND. 3. Exploring potential partnerships with interested stakeholders in RNDs to seek opportunities to leverage TRND activities. 4. Crafting a TRND Research & Development Request for Proposals through which future research will be funded. 5. Designing a solicitation and associated support system to bring new projects into the TRND pipeline.