Sampling, biomarker OPtimization and Harmonization In ALS (SOPHIA)

肌萎缩侧索硬化症(ALS)是神经学中最具破坏性的疾病之一，在欧洲任何时候都会影响约5万人，每年导致约1万人死亡。主要的临床特征是肌肉无力和消瘦，但也可能发生痴呆。ALS是研究所有神经退行性疾病的一个很好的模型，因为它具有特征性的表型，进展迅速，生前诊断与尸检诊断的相关性接近100%。然而，用于监测疾病活动、产生早期诊断和确定预后的有效神经化学生物标记物缺乏。积极的欧洲合作已经到位，以协调临床数据集、神经成像和神经病理学协议。已经制定了统一生物和组织样本的初步战略。现在迫切需要临床数据和样本收集的标准化方案，以优化和协调生物标记物的开发。这项提议的总体目标是为确定优先顺序和选择候选生物标记领域提供一个共同的欧洲战略，以便进行优化和协调。这反过来将提供一个长期平台，通过这个平台，与神经退行性疾病生物标记物相关的现有合作结构(包括学术倡议、共同资助战略、生物库、行业努力、公私联盟)被整合到一个包容性的基于网络的虚拟生物库中。然后，参与成员提供的样本和临床/成像/神经生理学和神经病理学数据集可以被最佳地利用，以实现最先进的协作分析。建立的平台还将作为该联盟与ALS/神经退行性疾病领域的其他成员之间的重要沟通渠道，以确保优化工作与整个ALS/ND领域一致，避免重复工作，并确保所有利益相关者更好地接受和利用项目结果。最终，该平台将被用于将结果传播到整个肌萎缩侧索硬化症/神经退行性变领域，并将作为一个永久性的互动欧洲肌萎缩侧索硬化症生物标记物平台，供研究人员使用已建立的泛欧洲肌萎缩侧索硬化症方法学来优化/协调新的生物标记物。该平台还将允许与其他同族团体(例如美国境内的Neals团体)以及患者团体和其他相关利益相关者进行互动。

Amyotrophic Lateral Sclerosis (ALS) is one of the most devastating diseases in neurology affecting some 50,000 individuals at any time in Europe, and causing around 10,000 deaths each year. The main clinical features are weakness and wasting of muscles, but dementia may also occur. ALS represents a good model for study of all neurodegenerative conditions, as it has a characteristic phenotype, rapid progression and the correlation between diagnosis during life and autopsy diagnosis is close to 100%. However, validated neurochemical biomarkers for monitoring disease activity, for generating earlier diagnoses and for defining prognosis are lacking. Active European collaborations are in place for harmonizing clinical datasets, neuroimaging and neuropathology protocols. A preliminary strategy for harmonization of biological and tissue samples has been established. Standardized protocols for clinical data and sample collection are now urgently required for optimization and harmonization of biomarker development. The overall aim of this proposal is to provide a common European strategy for the prioritization and selection of candidate biomarker domains for optimization and harmonization. This will in turn provide a long-term platform by which existing collaborative structures that are relevant to neurodegenerative disease biomarkers (including academic initiatives, co-funding strategies, biobanks, industrial efforts, private-public alliances) are integrated within an inclusive web-based virtual biobank. Samples and clinical/imaging/neurophysiologic and neuropathological datasets provided by participating members can then be optimally utilized to enable state of the art collaborative analyses.The established platform will also act as an important communication channel between this consortium and the rest of the ALS/Neurodegeneration field to ensure that the optimization efforts are in line with the whole ALS/ND field, to avoid duplication of work, and to ensure better acceptance and utilization of the project results by all stakeholders. Ultimately, the platform will be used to disseminate the results to the whole ALS/Neurodegeneration field, and will act as a permanent Interactive European ALS biomarker platform for researchers to optimize/harmonize novel biomarkers using an established pan-European ALS methodology. The platform will also allow interaction with those of other cognate groups (e.g the NEALS group within the US) and with patient groups and other relevant stakeholders.