Department of Psychiatry, Carver College of Medicine, The University of Iowa , Iowa City, IA , USA ; Department of Neurology, Carver College of Medicine, The University of Iowa , Iowa City, IA , USA ; Department of Psychology, The University of Iowa , Iowa City, IA , USA.
Department of Psychiatry, Carver College of Medicine, The University of Iowa , Iowa City, IA , USA ; Department of Biostatistics, College of Public Health, The University of Iowa , Iowa City, IA , USA.
Front Aging Neurosci. 2014 Apr 22;6:78. doi: 10.3389/fnagi.2014.00078. eCollection 2014.
There is growing consensus that intervention and treatment of Huntington disease (HD) should occur at the earliest stage possible. Various early-intervention methods for this fatal neurodegenerative disease have been identified, but preventive clinical trials for HD are limited by a lack of knowledge of the natural history of the disease and a dearth of appropriate outcome measures. Objectives of the current study are to document the natural history of premanifest HD progression in the largest cohort ever studied and to develop a battery of imaging and clinical markers of premanifest HD progression that can be used as outcome measures in preventive clinical trials. Neurobiological predictors of Huntington's disease is a 32-site, international, observational study of premanifest HD, with annual examination of 1013 participants with premanifest HD and 301 gene-expansion negative controls between 2001 and 2012. Findings document 39 variables representing imaging, motor, cognitive, functional, and psychiatric domains, showing different rates of decline between premanifest HD and controls. Required sample size and models of premanifest HD are presented to inform future design of clinical and preclinical research. Preventive clinical trials in premanifest HD with participants who have a medium or high probability of motor onset are calculated to be as resource-effective as those conducted in diagnosed HD and could interrupt disease 7-12 years earlier. Methods and measures for preventive clinical trials in premanifest HD more than a dozen years from motor onset are also feasible. These findings represent the most thorough documentation of a clinical battery for experimental therapeutics in stages of premanifest HD, the time period for which effective intervention may provide the most positive possible outcome for patients and their families affected by this devastating disease.
越来越多的人认为,亨廷顿病(HD)的干预和治疗应该尽可能在早期进行。已经确定了针对这种致命神经退行性疾病的各种早期干预方法,但由于缺乏对疾病自然史的了解和缺乏适当的结果测量方法,预防性临床试验受到限制。目前研究的目的是记录最大规模队列中 HD 前期进展的自然史,并开发一系列成像和临床标志物,以作为预防性临床试验的结果测量。亨廷顿病的神经生物学预测因子是一项 32 个地点的、国际性的、对 HD 前期的观察性研究,在 2001 年至 2012 年期间,每年对 1013 名有 HD 前期和 301 个基因扩展阴性对照的参与者进行检查。研究结果记录了代表成像、运动、认知、功能和精神领域的 39 个变量,显示了 HD 前期和对照组之间不同的下降速度。目前需要的样本量和 HD 前期模型被提出,以告知未来临床和临床前研究的设计。在 HD 前期进行预防性临床试验,这些参与者有中等或高的运动发病可能性,计算结果表明其与在确诊的 HD 中进行的临床试验一样有效,并且可以提前 7-12 年中断疾病的发生。从运动发病前超过十几年开始进行预防性临床试验的方法和措施也是可行的。这些发现代表了在 HD 前期阶段进行实验治疗的最全面的临床电池记录,在这个时期,有效的干预可能为受这种毁灭性疾病影响的患者及其家属带来最积极的结果。