PROSPECTIVE 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。亨廷顿氏病是一种遗传性疾病，其特征是运动、思维和判断能力的改变，通常始于成年期。这项研究的参与者是那些被认为有患HD的“风险”的人，因为他们的父母或兄弟姐妹患有这种疾病。要符合资格，一个人必须没有表现出任何患有这种疾病的迹象。这是一项观察性研究。这意味着本研究的研究参与者将定期接受检查，但您不会接受研究药物或治疗。所有研究参与者都将完成相同的程序。这些评估包括对健康、幸福感、情绪和信仰的评估。大多数评估都是通过问卷进行的。将采集血样以确定每位参与者是否携带HD基因，但这将完全保密。研究人员和参与者都不会知道结果。这项研究将为我们今后的研究药物试验提供重要的信息。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、女儿或兄弟姐妹）。在我们可以在携带HD基因的健康个体中测试研究药物之前，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的HD基因。我们希望在PHAROS中回答的一些问题包括：1)在一群有患HD风险的人中，有多少人会在5到7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？3)研究人员用来检测HD发病的评估有多准确？4)哪些因素会影响携带HD基因的人发病的年龄？

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 is an inherited (genetic) disease characterized by changes in movement, thought and judgment that usually begin in adulthood. Participants in this study are people who are considered "at risk" for developing HD because they have had a parent or sibling with the disease. To be eligible, a person must not be showing any signs of having the disease. This is an observational study. This means that research participants in this study will be examined periodically, but you will receive no investigational drugs or treatments. All participants in the study will complete the same procedures. These include assessments of health, well-being, mood, and beliefs. Most assessments are done using questionnaires. A blood sample will be taken to determine whether each participant carries the gene for HD, but this will be kept entirely confidential. Neither the researchers nor the participants will know the results. This study will give us important information for future trials of investigational drugs. Little research has been done in individuals who are at risk for developing an inherited disease (like the son, daughter or sibling of a person with HD). Before we can test investigational 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 HD gene. Some questions we hope to answer in PHAROS include: 1) In a group of people who are at risk for HD, how many will develop signs of the illness over a five to seven year period? 2) What are the earliest signs of the illness, and when do they start? 3) How accurate are the evaluations that researchers use in detecting the onset of HD? 4) What factors influence the age at which a person carrying the HD gene develops the illness?