COOPERATIVE HUNTINGTON'S OBSERVATIONAL RESEARCH TRIAL (COHORT)

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。 Cohort是一项观察性试验，旨在收集亨廷顿病(HD)家族成员的前瞻性数据。受试者要么被临床诊断为HD，要么是阳性基因携带者，要么有遗传风险/具有未知的基因状态。没有HD家族史(配偶)和/或基因阴性状态的家庭成员也有资格参加。对于18岁以下的个人，只有那些具有临床诊断特征并有阳性基因测试的人才有资格参加。符合条件的科目数量没有限制。 每年都会进行考察访问。基线程序包括：统一亨廷顿病分级表99(UHDRS 99)、简易精神状态检查(MMSE)、身体和神经检查、内科和伴随用药史。所有年龄在18岁及以上的受试者将采集一份血液样本，以获得受试者的基因/CAG重复数。对于18岁及以上的受试者，基线提供的可选程序包括完成家族史问卷(FHQ)，并在样本储存库中收集血液和尿样，以供将来进行HD研究。 年度研究访问包括：UHDRS 99；MMSE；体检；伴随药物的变化和既往病史。如果受试者同意在基线时参加FHQ，受试者将被要求提供有关新的死亡和HD发病的信息。如果受试者同意参加选择性血液和尿液样本的储存库，这些样本将被收集。

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. COHORT is an observational trial designed to collect prospective data from individuals who are part of a Huntington's disease (HD) family. Subjects will either be clinically diagnosed with HD, be a positive gene carrier, or be at-risk for inheritance/have an unknown gene status. Family members who have no HD family history (spouses) and/or gene negative status are also eligible to participate. For individuals under age 18, only those with clinically diagnosed features of HD in conjunction with a positive gene test will be eligible to participate. There is no limit on the number of eligible subjects. Study visits occur annually. Baseline procedures include: Unified Huntington's Disease Rating Scale 99 (UHDRS 99), Mini-Mental State Examination (MMSE), physical and neurological examinations, medical and concomitant medication history. All subjects 18 years of age and older will have a single blood specimen collected to obtain the subject's genotype/CAG repeat number. Optional procedures available at baseline for subjects 18 years of age and older include the completion of a Family History Questionnaire (FHQ) and the collection of blood and urine samples in a specimen repository for future research in HD. Annual study visits include: UHDRS 99; MMSE; medical examination; changes in concomitant medications and previous medical history. If the subject agreed to participate in the FHQ at baseline, the subject will be asked to provide information about new deaths and onsets of HD. If the subject agreed to participate in the optional blood and urine samples for repository storage, these samples will be collected.