PILOT HUNTINGTON AT RISK OBSERVATIONAL STUDY (PHAROS)

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 亨廷顿病(HD)是一种遗传性(遗传性)疾病，其特征是运动和智力的变化，通常始于成年。这项观察性研究将定期检查没有明确HD症状，但因父母或兄弟姐妹患有HD而被认为“有风险”患上HD的人。 对有遗传性疾病风险的个人(如HD患者的儿子或女儿)进行的研究很少。在我们可以在携带HD基因的健康人身上测试实验药物之前，我们必须解决一些涉及所有HD风险人群的重要问题，无论他们是否遗传了异常基因。我们希望在Pharos回答的一些问题包括： -在一组有HD风险的人中，有多少人会在三年内出现疾病迹象？ -疾病的最早症状是什么，什么时候开始？ -研究人员在检测HD发病时使用的测量方法的准确性有多高？ -哪些因素影响携带HD基因的人患上这种疾病的年龄？ Pharos是一项统一的研究工作，涉及美国约38个中心。预计将有1000名参与者参加，其中50人将在北卡罗来纳州维克森林大学医学院注册。

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.