PROSPECTIVE 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。 亨廷顿氏病是一种遗传性(遗传性)疾病，其特征是通常在成年时开始出现运动、思维和判断方面的变化。这项研究的参与者是那些被认为有患HD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疾病的迹象。 这是一项观察性研究。这意味着这项研究的参与者将定期接受检查，但您将不会接受任何研究药物或治疗。这项研究的所有参与者都将完成相同的程序。这些评估包括对健康、幸福、情绪和信仰的评估。大多数评估都是通过问卷调查完成的。将采集血样以确定每个参与者是否携带HD基因，但这将完全保密。无论是研究人员还是参与者都不会知道结果。这项研究将为我们未来的研究药物试验提供重要的信息。对有遗传性疾病风险的个人(如HD患者的儿子、女儿或兄弟姐妹)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研究药物之前，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的HD基因。我们希望在Pharos回答的一些问题包括： 1)在一组有HD风险的人中，有多少人会在五到七年内出现疾病的迹象？ 2)这种疾病的最早症状是什么，什么时候开始？ 3)研究人员在检测HD发病时使用的评估的准确性有多高？ 4)携带HD基因的人患这种疾病的年龄受哪些因素影响？

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?'