SPORTAX-NHS
Observational Study on Adult Onset Sporadic Ataxias
The clinical picture of sporadic degenerative ataxias is divided into cerebellar-type multiple system atrophy (MSA) and "sporadic adult onset ataxia of unknown aetiology" (SAOA). The aims of the SPORTAX study are to precisely characterize the two forms of the disease and to compare their courses. In addition, it will seek to identify factors that can influence the development of the disease and that can be used to precisely diagnose it, at early stages.
Further information is available here.
Study participation
If you would like to take part in this study, please contact a study team in your area. You will find the contact details in the list of participating sites.
Principle Investigator: PD Dr. Jennifer Faber
Status: multi centric, ongoing, recruiting active
Study Coordination / Project Management
Publications
Beijer D, Mengel D, Önder D, Wilke C, Traschütz A, Faber J, Timmann D, Boesch S, Vielhaber S, Klopstock T, van de Warrenburg BP, Silvestri G, Kamm C, Wedding IM, Fleszar Z, Harmuth F, Dufke C, Brais B, Rieß O, Schöls L, Haack T, Züchner S, Pellerin D; SPORTAX consortium; Klockgether T, Synofzik M. The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort. EBioMedicine. 2025 May;115:105715. doi: 10.1016/j.ebiom.2025.105715. Epub 2025 Apr 23. PMID: 40273470; PMCID: PMC12051541.
Oender D, Faber J, Wilke C, Schaprian T, Lakghomi A, Mengel D, Schöls L, Traschütz A, Fleszar Z, Dufke C, Vielhaber S, Machts J, Giordano I, Grobe-Einsler M, Klopstock T, Stendel C, Boesch S, Nachbauer W, Timmann-Braun D, Thieme AG, Kamm C, Dudesek A, Tallaksen C, Wedding I, Filla A, Schmid M, Synofzik M, Klockgether T. Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia. Mov Disord. 2023 Apr;38(4):654-664. doi: 10.1002/mds.29324. Epub 2023 Jan 25. PMID: 36695111.
Faber J, Giordano I, Jiang X, Kindler C, Spottke A, Acosta-Cabronero J, Nestor PJ, Machts J, Düzel E, Vielhaber S, Speck O, Dudesek A, Kamm C, Scheef L, Klockgether T. Prominent White Matter Involvement in Multiple System Atrophy of Cerebellar Type. Mov Disord. 2020 May 15; 35 (5); 816-824. doi: 10.1002/mds.27987.
Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. Neurology. 2017 Sep 05; 89(10). doi: 10.1212/WNL.0000000000004311.