Prospective Huntington At Risk Observational Study

描述（由申请人提供）：潜在的亨廷顿风险 观察性研究（PHAROS）是由亨廷顿研究小组（HSG）发起的 在1999年，描述和测量了亨廷顿舞蹈症的临床发病情况。氏病 (HD)在一组有直接风险（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 年，谁没有经历过HD基因的测试，谁希望留在 不知道他们的HD基因状态，但有兴趣在促进 通过研究了解HD。根据一项严格的安排， 隐藏遗传信息，从参与者那里获得血液样本， 测量HD基因的胞嘧啶-腺嘌呤-鸟嘌呤三核苷酸重复（GAG）。 标准化的临床评估大约每隔9个月进行一次 由研究者进行长达7年的前瞻性观察， 不知道HD基因状态，以确定早期HD基因特异性体征 预示着明显的疾病。近500名研究参与者已经 在美国的36个研究中心和加拿大的6个研究中心入组PHAROS。我们计划 在2001年11月之前招募1000名参与者，并要求 对所有PHAROS参与者进行前瞻性随访， 2006. PHAROS将提供关于阳性预测的客观知识， 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剂。 在美国，只有3%的成年人有患HD的直接风险。 选择接受症状前HD基因预测测试，但 对于97%的人，我们所知相对较少。PHAROS将引领 对可行性、社会心理、道德、保密性的理解 以及与这些未充分研究的大多数处于危险中的个人相关的法律的问题 他们选择不知道自己的HD命运总体而言， PHAROS将：1）完善HD发作的临床预测因素之间的关系 和CAG，2）帮助识别HD的其他遗传和环境修饰剂 3）提高可行性、安全性、效率、道德行为和 成功的预防性试验旨在延迟HD发作，和4）提供新的 洞察力和改善个人谁的风险发展这种致命的护理 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.