PILOT HUNTINGTON AT RISK OBSERVATIONAL STUDY (PHAROS)

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。这项研究的目的是以严格的方式描述携带亨廷顿病(HD)基因的个体从健康到疾病(表型转换)的关键时期，并确定一种旨在推迟症状前基因携带者临床发作的实验性治疗药物临床试验的合理设计的方法学。对表观转化率的前瞻性测定对于此类试验的样本量估计是必要的。此外，在这一人群中测试任何治疗干预措施之前，在试点观察性研究的背景下仔细考虑可行性和伦理问题(如知情同意和保密)是至关重要的。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The purpose of this study is to characterize, in a rigorous fashion, the critical period marking the transition from health to illness (phenoconversion) in individuals who carry the Huntington's Disease (HD) gene, and to determine a methodology for the rational design of clinical trials of experimental therapeutic agents aimed at postponing clinical onset in presymptomatic gene carriers. The prospective determination of the phenoconversion rate is necessary for sample size estimation for such trials. In addition, a careful consideration of feasibility and ethical issue (such as informed consent and confidentiality) in the setting of the pilot observational study is essential before testing any therapeutic intervention in this population.