A MULTICENTER STUDY FOR THE VALIDATION OF ALS BIOMARKERS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 主要目的是确定肌萎缩侧索硬化症(ALS)的发病因素。开发疾病生物标记物和诊断性实验室测试将有助于早期治疗干预，帮助监测治疗效果，并最终导致确定可用于治疗开发的目标。 具体目标1是开发一种实验室测试，可供初级保健医生、神经科医生和其他临床医生使用，以提供有关需要担心的事情(可能的ALS)的指导。它将有助于在疾病进展的早期向神经科专家提供适当的转介。可以容忍假阴性，但不能容忍假阳性(即要求具有可接受的灵敏度的高特异度)。 这项测试将识别患有肌萎缩侧索硬化症的人，并将肌萎缩侧索硬化症与出现类似症状的疾病(例如腕管疾病、神经根病、肌病)区分开来。对ALS具有高灵敏度的测试对于专业神经科医生以及在临床试验中早期和准确地检测非常有用。血液和脑脊液样本将在代表美国四个地区的多个地点收集，这些样本来自年龄和性别匹配的健康人、疾病模拟者和ALS患者。 具体目标2是评估在目标1中发现的生物标记物如何随病程变化。血液样本将从肌萎缩侧索硬化症和疑似肌萎缩侧索硬化症志愿者身上纵向采集。

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. The primary objective is to identify factors that contribute to the pathogenesis of amyotrophic lateral sclerosis (ALS). Development of disease biomarkers and diagnostic laboratory tests would facilitate earlier treatment intervention, help monitor treatment efficacy; and, ultimately, lead to the identification of targets that could be used in therapy development. Specific aim 1 is to develop a laboratory test that can be used by primary care physicians, neurologists and other clinicians to provide guidance with regard to something to worry about (possible ALS). It would provide benefit in generating appropriate referrals to neurological specialists early in disease progression. False negatives could be tolerated but false positives cannot (i.e. high specificity required with acceptable sensitivity). The test will identify people with ALS and distinguish ALS from disorders that present with similar symptoms (e.g. carpal tunnel, radiculopathies, myopathies). A test with high sensitivity for ALS can be very useful for specialty neurologist as well for early and accurate detection for inclusion in clinical trials. Blood and CSF samples will be collected at multiple sites representing the four regions of the United States from age and gender matched healthy individuals, disease mimics, and ALS patients. Specific aim 2 is to assess how biomarkers discovered in aim 1 change with disease course. Blood samples will be collected longitudinally from ALS and suspected ALS volunteers.