Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.
Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.
Neuropathol Appl Neurobiol. 2023 Apr;49(2):e12892. doi: 10.1111/nan.12892.
The European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) is a consortium established with the ambition to set up the largest European longitudinal trial-ready cohort of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD), the most common autosomal dominantly inherited ataxia worldwide. A major focus of ESMI has been the identification of SCA3/MJD biomarkers to enable future interventional studies. As biosample collection and processing variables significantly impact the outcomes of biomarkers studies, biosampling procedures standardisation was done previously to study visit initiation. Here, we describe the ESMI consensus biosampling protocol, developed within the scope of ESMI, that ultimately might be translated to other neurodegenerative disorders, particularly ataxias, being the first step to protocol harmonisation in the field.
欧洲脊髓小脑共济失调 3 型/马查多-约瑟夫病倡议 (ESMI) 是一个联盟，其目标是建立世界上最大的、可随时进行纵向研究的脊髓小脑共济失调 3 型/马查多-约瑟夫病 (SCA3/MJD) 欧洲队列，SCA3/MJD 是最常见的常染色体显性遗传性共济失调。ESMI 的一个主要重点是确定 SCA3/MJD 生物标志物，以实现未来的干预研究。由于生物样本采集和处理变量会显著影响生物标志物研究的结果，因此在开始研究访问之前，已经对生物样本采集程序进行了标准化。在这里，我们描述了 ESMI 共识生物样本采集协议，该协议是在 ESMI 范围内制定的，最终可能会被转化为其他神经退行性疾病，特别是共济失调，这是该领域方案协调的第一步。
