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Title: | A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia | Authors: | Santana, Magda M. Gaspar, Laetitia S. Pinto, Maria M. Silva, Patrick Joel da Adão, Diana Pereira, Dina Ribeiro, Joana Afonso Cunha, Inês Huebener-Schmid, Jeannette Raposo, Mafalda Ferreira, Ana F. Faber, Jennifer Kuhs, Sandra Garcia-Moreno, Hector Reetz, Kathrin Thieme, Andreas Infante, Jon van de Warrenburg, Bart P. C. Giunti, Paola Riess, Olaf Schöls, Ludger Lima, Manuela Klockgether, Thomas Januário, Cristina Almeida, Luís Pereira de |
Keywords: | ataxia; biomarkers; blood,; cerebrospinal fluid; neurodegenerative diseases; protocol; research; standardisation | Issue Date: | Apr-2023 | Publisher: | Wiley-Blackwell | Project: | This project was supported by the EU Joint Programme—Neurodegenerative Disease Research (JPND) through the following funding organisations under the aegis of JPND: Portugal, Foundation for Science and Technology (FCT, grant number JPCOFUND/0001/2015) and Regional Fund for Science and Technology of the Azores; Germany, Federal Ministry of Education and Research (BMBF; funding codes 01ED1602A/B); Netherlands, The Netherlands Organisation for Health Research and Development; United Kingdom, Medical Research Council. This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement number 643417. In addition, support has been received by the ERDF through the Regional Operational Program Center 2020, Competitiveness Factors Operational Program (COMPETE 2020, POCI) and National Funds through FCT [BrainHealth2020 (CENTRO-01-0145-FEDER-000008), UID/NEU/04539/2019–2021, BDforMJD (CENTRO-01-0145-FEDER-181240), ViraVector (CENTRO- 01-0145-FEDER-022095), SpreadSilencing (POCI-01-0145- FEDER-029716)], and by the National Ataxia Foundation (USA), the American Portuguese Biomedical Research Fund (APBRF) and the Richard Chin and Lily Lock Machado-Joseph Disease Research Fund. MR (CEECIND/03018/2018), AFF (SFRH/BD/121101/2016), LG (PD/BD/135497/2018) and PS (SFRH/BD/148451/2019) are supported by FCT. PG is supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre UCLH. PG receives also support from the North Thames CRN. PG and HGM, work at University College London Hospitals/ University College London, which receives a proportion of funding from the Department of Health’s National Institute for Health Research Biomedical Research Centre’s funding scheme. PG received funding from CureSCA3 in support of HGM work. | Serial title, monograph or event: | Neuropathology and Applied Neurobiology | Volume: | 49 | Issue: | 2 | 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. | URI: | https://hdl.handle.net/10316/113457 | ISSN: | 0305-1846 1365-2990 |
DOI: | 10.1111/nan.12892 | Rights: | openAccess |
Appears in Collections: | FFUC- Artigos em Revistas Internacionais IIIUC - Artigos em Revistas Internacionais I&D CIBB - Artigos em Revistas Internacionais I&D CNC - Artigos em Revistas Internacionais |
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