COOPERATIVE HUNTINGTON'S OBSERVATIONAL RESEARCH TRIAL (COHORT)

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 COHORT是一项观察性试验，旨在收集来自亨廷顿病（HD）家族成员的前瞻性数据。 受试者将被临床诊断为HD，是阳性基因携带者，或有遗传风险/基因状态未知。 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，只有那些临床诊断患有HD特征且基因检测呈阳性的人才有资格参加。 对合格受试者的数量没有限制。 研究访视每年进行一次。 基线程序包括：统一亨廷顿氏病评定量表99（UHDRS 99）、简易精神状态检查（MMSE）、体格和神经系统检查、病史和伴随用药史。 所有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型/CAG重复编号。 对于18岁及以上受试者，基线时可用的可选程序包括完成家族史问卷（FHQ），并在标本库中采集血液和尿液样本，用于未来的HD研究。 年度研究访视包括：UHDRS 99; MMSE;医学检查;合并用药和既往病史的变化。 如果受试者同意在基线时参加FHQ，将要求受试者提供关于新发死亡和HD发作的信息。 如果受试者同意参与可选的血液和尿液样本储存库储存，则将采集这些样本。

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.