PILOT HUNTINGTON AT RISK OBSERVATIONAL STUDY (PHAROS)

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。本研究的目的是以严谨的方式描述携带亨廷顿舞蹈病（HD）基因的个体从健康到疾病（表型转化）过渡的关键时期，并确定一种方法，以合理设计旨在推迟症状前基因携带者临床发病的实验性治疗药物的临床试验。表型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，在对该人群进行任何治疗干预之前，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）是必不可少的。

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.