Open Access

Filippo M. SantorelliORCiD, Hayley S. McLoughlinORCiD, Justin M. WolterORCiD, Daniele GalatoloORCiD, Matthis SynofzikORCiD, David MengelORCiD, Puneet OpalORCiD, Irina Antonijevic, Georg Auburger, Luis Bataller, Enrico Bertini, Sylvia Boesch, Samantha Boeshore, Ronald Buijsen, Edwin Chan, Giulia Coarelli, Nicolas Dupré, Alexandra Durr, Andreas Eigentler, Ewelina Elert-Dobkowska, Carmen Espinos, Mohammed Faruq, Mario Fichera, Brent Fogel, Pilar Garces, Holm Graessner, Morteza Heidari, Henry Houlden, Jeannette Hübener-SchmidORCiD, Laura Jardim, Osamu Onodera, Luis Pereira de Almeida, Guido Primiano, Hélène Puccio, Liana Rosenthal, Francesco Saccà, Maria Luiza Saraiva-Pereira, Thorsten Schmidt, Ludger Schöls, Gabriella Silvestri, Neta Zach

• The Ataxia Global Initiative (AGI) aims to serve as a platform to facilitate clinical trial readiness for the hereditary ataxias. Clinical trials for these diseases have been hampered by the lack of objective measures to study disease onset, progression, and treatment efficacy. While these issues are not unique to the genetic ataxias, the relative rarity of these diseases makes the need for such measures even more pressing to achieve statistical power in clinical trials. In this report, we have described the efforts of the AGI fluid biomarker working group (WG) in developing uniform protocols for biomarker sampling and storage, both for human and preclinical studies in mice. By reducing collection variability, we anticipate reduced noise in downstream biomarker analysis that will improve statistical power and minimize the necessary sample size. The emphasis has been on defining and standardizing the sampling and pre-analytical work-up of minimal set of biological samples, specifically blood plasma and serum, keeping in mind the need for harmonization of collection and storage that can be achieved with relatively limited cost and resources. An optional package is detailed for those centers that have the resources and commitment for additional biofluids/sample processing and storage. Finally, we have delineated similar standardized protocols for mice that will be important for preclinical studies in the field.