Prospective Huntington At Risk Observational Study

描述(由申请者提供)：未来的亨廷顿面临风险 观察性研究(PHAROS)由亨廷顿研究小组(HSG)发起 1999年亨廷顿-S病临床发病特点及评价 (HD)在面临直接风险(50：50)的不同人群中 遗传了HD基因。参与者包括30-55岁的健康成年人 多年，没有接受过HD基因检测并希望留下来的人 不知道自己的HD基因状态，但有兴趣为 通过研究了解高清。在严格的安排下 隐藏遗传信息，从参与者那里获取血液样本以 测定HD基因胞嘧啶-腺嘌呤-鸟嘌呤三核苷酸重复序列(GAG)。 标准化的临床评估大约每隔9个月进行一次 由调查人员进行长达7年的前瞻性观察，他们也被 不知道HD基因状态，以便确定早期的HD基因特异性标志 预示着明显的疾病。近500名研究参与者已经 在美国的36个地点和加拿大的6个地点注册了Pharos。我们计划 在2001年11月之前注册全部1000名参与者，并申请 所有Pharos参与者对计划于#年结束的预期后续行动 2006年。Pharos将提供关于积极预测的客观知识 HD早期临床体征的价值和可靠性及其与 CAG和其他遗传和环境修饰物。 在美国，只有3%的成年人有患HD的直接风险 已经选择接受HD基因的症状前预测测试，但 对于97%没有这样做的人，人们知之甚少。法老们将领跑 对可行性、心理社会、伦理、保密的理解 以及与这一研究不足的大多数高危个人相关的法律问题 他们选择不知道自己的HD命运。总体上，完成 Pharos将：1)完善HD发病的临床预测因素之间的关系 和CAG，2)帮助确定HD的其他遗传和环境修饰因素 启动，3)增强可行性、安全性、有效性、道德操守和 旨在推迟HD发病的预防性试验的成功，以及4)提供了新的 洞察和改善对有可能患上这种致命疾病的人的护理 神经遗传性疾病。

DESCRIPTION (provided by applicant): The Prospective Huntington At Risk Observational Study (PHAROS) was initiated by the Huntington Study Group (HSG) in 1999 to characterize and measure the clinical onset of Huntington?s disease (HD) in a diverse cohort of individuals who are at immediate risk (50:50) for having inherited the HD gene. Participants include healthy adults, age 30-55 years, who have not undergone testing for the HD gene and who wish to remain unaware of their HD gene status, yet are interested in contributing to knowledge about HD through research. Under a stringent arrangement that conceals genetic information, a blood sample is obtained from participants to measure the cytosine-adenine-guanine trinucleotide repeat (GAG) of the HD gene. Standardized clinical assessments are carried out at about 9-month intervals for up to 7 years of prospective observation by investigators who are also kept unaware of HD gene status in order to define early, HD-gene specific signs predictive of manifest disease. Nearly 500 research participants have already been enrolled in PHAROS at 36 sites in the U.S. and 6 in Canada. We plan to enroll the entire cohort of 1000 participants by November 2001, and request prospective follow up of all PHAROS participants to a planned conclusion in 2006. PHAROS will provide objective knowledge about the positive predictive value and reliability of early clinical signs of HD and their relationship to CAG and other genetic and environmental modifiers. Only 3 percent of adults in the U.S. who are at immediate risk to develop HD have chosen to undergo presymptomatic predictive testing for the HD gene, but relatively little is known about the 97 percent who have not. PHAROS will lead to an understanding of the feasibility, psychosocial, ethical, confidentiality and legal issues relevant to this under-studied majority of at-risk individuals who have chosen not to learn of their HD fate. Collectively, completion of PHAROS will: 1) refine the relationship between clinical predictors of HD onset and CAG, 2) help identify other genetic and environmental modifiers of HD onset, 3) enhance the feasibility, safety, efficiency, ethical conduct and success of preventive trials aimed at delaying HD onset, and 4) provide new insights for and improve care of individuals who risk developing this fatal neurogenetic disorder.