Therapeutics for Rare and Neglected Diseases - Science

五个TRND试点项目的工作仍在继续，选择这些项目是为了在征集之前建立程序，项目阶段、疾病类型和合作者各不相同。这五项试验计划包括： 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.Niemann-Pick 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 2011财年，首个TRND项目征集成功启动。征集活动共收到63份建议书；这些建议书来自工业界、学术界、政府实验室和非营利性机构。这些提案由一个外部专家小组审查。选择了四个项目进行协作，代表了不同的项目类型： 1.杜氏肌营养不良症，一种罕见疾病 2.脆性X综合征--一种罕见疾病 3.隐球菌性脑膜炎--一种被忽视的疾病 4.CBF白血病，一种罕见疾病 2011财年期间还启动了第二次征集活动，2012财年期间将选定要协作的提案。 针对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由TRND执行和/或提供的下列领域的资源： 1.药物化学 2.药理学 3.毒理学 4.药物动力学/药效学药物代谢 5.功效 6.化合物配方和放大 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 在2011财年，TRND的两个试点项目进入了新药研究(IND)应用阶段。 除了个别TRND试点项目的科学进展外，在罕见疾病信息学、毒理学和新的疗效模型方面的技术/范式开发也在继续。 以下领域的业务工作也在继续： 1.确定跨国立卫生研究院工作人员咨询小组(TAG)的治理并举行会议。 2.参加与有兴趣了解TRND的公司、学术科学家和疾病界个人举行的多次会议。 3.探索与区域发展方案中感兴趣的利益攸关方建立潜在的伙伴关系，以寻找利用区域发展方案活动的机会。 4.起草和最后确定一份TRND研究与开发申请，以获得未来研究的资金。 5.设计和评估将新项目纳入TRND管道的招标和相关支助系统。

Work has continued on the five TRND pilot projects, which 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 In FY11, the first TRND project solicitation was successfully launched. Sixty-three proposals were received in response to the solicitation; these proposals came from industry, academia, government laboratories, and not-for-profit institutions. The proposals were reviewed by an external panel of experts. Four projects were selected for collaboration, representing a diverse group of project types: 1. Duchenne Muscular Dystrophy, a rare disease 2. Fragile X Syndrome, a rare disease 3. Cryptococcal meningitis, a neglected disease 4. CBF leukemia, a rare disease A second solicitation was also launched during FY11, and proposals will be selected for collaboration during FY12. 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 FY11, two of the TRND pilot projects advanced to the Investigational New Drug (IND) application phase. In addition to scientific advancement on the individual TRND pilot projects, technology/paradigm development in rare diseases informatics, toxicology, and novel efficacy models has continued. 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 and finalizing a TRND Research & Development Request for Proposals through which future research will be funded. 5. Designing and evaluating the solicitation and associated support system to bring new projects into the TRND pipeline.