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。亨廷顿氏病（HD）是一种以运动和智力变化为特征的遗传性疾病，通常始于成年期。这项观察性研究将定期检查那些没有明确的HD症状，但由于父母或兄弟姐妹患有HD而被认为有患病风险的个体。很少有研究针对有患遗传性疾病风险的个体（如HD患者的儿子或女儿）。在我们可以在携带HD基因的健康个体身上测试实验性药物之前，我们必须解决一些涉及所有有HD风险的人的重要问题，无论他们是否遗传了异常基因。我们希望在PHAROS中回答的一些问题包括：在一组有患HD风险的人群中，有多少人会在三年的时间里出现这种疾病的迹象？-这种疾病最早的症状是什么？什么时候开始？研究人员在检测HD发病时使用的测量方法有多准确？什么因素会影响携带HD基因的人发病的年龄？Pharos是一个统一的研究项目，涉及美国大约38个中心。预计总共将有1000名参与者被录取，其中50人将被北卡罗来纳州维克森林大学医学院录取。

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. Huntington's Disease (HD) is an inherited (genetic) disease characterized by changes in movement and intellect that usually begin in adulthood. This observational study will periodically examine individuals who have no definite signs of HD, but who are considered "at risk" for developing the illness because they have (or had) a parent or sibling with HD. Little research has been done in individuals who are at risk for developing an inherited disease (like the son or daughter of a person with HD). Before we can test experimental drugs in healthy individuals who carry the HD gene, we have to address some important issues involving all persons at risk for HD, whether or not they have inherited the abnormal gene. Some questions we hope to answer in PHAROS include: - In a group of people who are at risk for HD, how many will develop signs of the illness over a three-year period? - What are the earliest signs of the illness, and when do they start? - How accurate are the measurements that researchers use in detecting the onset of HD? - What factors influence the age at which a person carrying the HD gene develops the illness? Pharos is a unified research effort involving approximately 38 centers in the United States. A total of 1000 participants are expected to be enrolled, 50 of whom will be enrolled at the Wake Forest University School of Medicine, NC.