A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.

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. © 2023 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.

Citation

Magda M Santana, Laetitia S Gaspar, Maria M Pinto, Patrick Silva, Diana Adão, Dina Pereira, Joana Afonso Ribeiro, Inês Cunha, Jeannette Huebener-Schmid, Mafalda Raposo, Ana F Ferreira, Jennifer Faber, Sandra Kuhs, Hector Garcia-Moreno, Kathrin Reetz, Andreas Thieme, Jon Infante, Bart P C van de Warrenburg, Paola Giunti, Olaf Riess, Ludger Schöls, Manuela Lima, Thomas Klockgether, Cristina Januário, Luís Pereira de Almeida, European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative Study Group. A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia. Neuropathology and applied neurobiology. 2023 Apr;49(2):e12892

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PMID: 36798010

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