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. 2023 Apr;49(2):e12892.
doi: 10.1111/nan.12892.

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

Magda M Santana  1   2   3 , Laetitia S Gaspar  1   2   3 , Maria M Pinto  1   2   4 , Patrick Silva  1   2   3   4 , Diana Adão  1   2 , Dina Pereira  1   2   3 , Joana Afonso Ribeiro  5 , Inês Cunha  6 , Jeannette Huebener-Schmid  7   8 , Mafalda Raposo  9   10 , Ana F Ferreira  10 , Jennifer Faber  11   12 , Sandra Kuhs  11 , Hector Garcia-Moreno  13   14 , Kathrin Reetz  15   16 , Andreas Thieme  17   18 , Jon Infante  19 , Bart P C van de Warrenburg  20 , Paola Giunti  13   14 , Olaf Riess  7   8 , Ludger Schöls  21   22 , Manuela Lima  10 , Thomas Klockgether  11   12 , Cristina Januário  6 , Luís Pereira de Almeida  1   2   4 ; European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative Study Group
Collaborators, Affiliations

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

Magda M Santana et al. Neuropathol Appl Neurobiol. 2023 Apr.

Abstract

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.

Keywords: ataxia; biomarkers; blood; cerebrospinal fluid; neurodegenerative diseases; protocol; research; standardisation.

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Conflict of interest statement

JAR is a participant of advisory boards for Biogen, Roche and Novartis and received speaking fees for Biogen. JF received funding as a fellow of the Hertie Network of Excellence in Clinical Neuroscience; KR has received grants from the German Federal Ministry of Education and Research (BMBF 01GQ1402, 01DN18022), the German Research Foundation (IRTG 2150), Alzheimer Forschung Initiative e.V. (NL‐18002CB), Friedreich's Ataxia Research Alliance (FARA) and honoraria for presentations or advisory boards from Biogen and Roche. BvdW receives research support from ZonMW, Hersenstichting, Gossweiler Foundation and Radboud University Medical Center; he has served on the scientific advisory board of uniQure and receives royalties from BSL‐Springer Nature; PG has received grants and personal fees from Vico Therapeutics, personal fees from Triplet Therapeutics, grants and personal fees from Reata Pharmaceutical and grants from Wave. OR received institutional grants from Illumina for the implementation of genome analysis into diagnostics and to study the host contribution to COVID19 disease severity. TK receives/has received research support from the Deutsche Forschungsgemeinschaft (DFG), the Bundesministerium für Bildung und Forschung (BMBF), the Bundesministerium für Gesundheit (BMG), the Robert Bosch Foundation, the European Union (EU) and the National Institutes of Health (NIH). He has received consulting fees from Biogen, Biohaven, Roche, UCB, Uniqure and Vico Therapeutics. He has received a speaker honorarium from Novartis and Bayer. LPA research group has private funding from PTC Therapeutics, Uniqure, Wave life Sciences, Blade Therapeutics and Hoffmann‐La Roche AG outside the submitted work. MMS, LSG, MMP, PS, DA, DP, IC, JHS, MR, AFF, JF, SK, HGM, AT, JI, LS, ML and CJ have no disclosures.

Figures

FIGURE 1
FIGURE 1
Protocol for PAXgene tube and cell preparation tube processing. Workflow summarising the protocol for RNA PAXgene tube (A) and cell preparation tube (B) processing to obtain whole blood and peripheral blood mononuclear cells (PBMCs) and plasma for biomarker studies, respectively. This picture was drawn specifically for this publication and is not included in ESMI biosampling manual. Created with BioRender.com (agreement number: JK24YGCI87).
FIGURE 2
FIGURE 2
Protocol for serum separator tube, plasma preparation tube and EDTA tube processing. Workflow summarising the protocol for serum separator tube (A), plasma preparation tube (B) and EDTA tube (C) processing to obtain serum, plasma and whole blood for biomarker studies, respectively. This picture was drawn specifically for this publication and is not included in European Spinocerebellar Ataxia Type 3/Machado‐Joseph Disease Initiative (ESMI) biosampling manual. Created with BioRender.com (agreement number: DF250CCVQ0).
See this image and copyright information in PMC

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