At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolled.
At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolled.
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存在亨廷顿病风险：PHAROS（前瞻性亨廷顿病风险观察研究）队列已入组。
DOI：
10.1001/archneur.63.7.991
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发表时间：
2006
影响因子：
--
通讯作者：
HuntingtonStudyGroupPHAROSInvestigators
中科院分区：
文献类型：
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作者：
HuntingtonStudyGroupPHAROSInvestigators
目的以可靠的、基因特异性的方式识别亨廷顿病（HD）早期发病的新出现的临床前兆。这一信息对于旨在延缓HD基因携带者临床发病的治疗试验的发展至关重要。方法：在1999年7月至2004年1月期间，1001名患HD风险为50%的成年人同意提供纵向临床数据和血液DNA样本，同意条款要求他们的个人临床和遗传信息永远不会泄露。结果前瞻性亨廷顿风险观察研究（PHAROS）队列的特点是女性与男性的比例为2:1，受教育程度高，就业报酬高。尽管存在性别差异，但女性和男性参与者的人口统计学、遗传和临床特征是相似的。不知道个体基因状态的研究人员将基线队列描述为具有最小运动或认知障碍的高度功能；92.3%的参与者被判定无或非特异性运动异常；6.7%，有可能或可能的运动体征；只有1.0%的人患有明确的HD。结论PHAROS队列的基线特征使其非常适合生成基因特异性临床前体的客观和前瞻性数据，这些数据可用于旨在推迟HD发病的对照试验的结果。
ObjectiveTo identify the emerging clinical precursors that indicate the early onset of Huntington disease (HD) in a reliable and gene-specific manner. This information is critical for the development of therapeutic trials aimed at postponing clinical onset in HD gene carriers.MethodsBetween July 1999 and January 2004, 1001 adults at 50-50 risk for HD agreed to provide longitudinal clinical data and a blood DNA sample under consent provisions that require their individual clinical and genetic information to never be revealed.ResultsThe Prospective Huntington At Risk Observational Study (PHAROS) cohort is characterized by a 2:1 predominance of women to men, high educational attainment, and gainful employment. Despite the gender disparity, the demographic, hereditary, and clinical characteristics of the female and male participants were similar. Investigators, who are unaware of individual gene status, characterized the baseline cohort to be highly functional with minimal motor or cognitive impairment; 92.3% of participants were judged to have no or nonspecific motor abnormalities; 6.7%, to have possible or probable motor signs; and only 1.0%, to have unequivocal HD.ConclusionThe baseline characteristics of the PHAROS cohort make it well suited to generate objective and prospective data about gene-specific clinical precursors that can be used as outcomes in controlled trials aimed at postponing the onset of HD.