Journal Article (Review Article)

DZNE-2026-00694

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png MRI end-points for clinical trials in ataxias: recommendations from the Ataxia Global Initiative MRI Biomarkers Working Group.

Öz, G. ; Cocozza, S. ; Rezende, T. J. R. ; Henry, P.-G. ; Faber, J.DZNE* ; Harding, I. H. ; Biomarkers, A. G. I. W. G. o. M. (Collaboration Author) ; Accolla, E. A. (Contributor) ; Adarmes-Gómez, A. (Contributor) ; Alhusaini, S. (Contributor) ; Bando, K. (Contributor) ; Boesch, S. (Contributor) ; Cossa, A. (Contributor) ; Deistung, A. (Contributor) ; D'Ostilio, K. (Contributor) ; Ferreira, M. (Contributor)Extern* ; Franca, M. C. (Contributor) ; Fuin, N. (Contributor) ; Gazdzinski, S. (Contributor) ; Grisoli, M. (Contributor) ; Heidari, M. (Contributor) ; Indelicato, E. (Contributor) ; Joers, J. M. (Contributor) ; Kapteijns, K. (Contributor) ; Kinnunen, K. M. (Contributor) ; Kovacs, N. (Contributor) ; Lenglet, C. (Contributor) ; Makowska, L. (Contributor) ; Mariotti, C. (Contributor) ; Marvel, C. L. (Contributor) ; Minnerop, M. (Contributor) ; Mochel, F. (Contributor) ; Rangel, D. M. (Contributor) ; Nachbauer, W. (Contributor) ; Nigri, A. (Contributor) ; Nobre, R. J. (Contributor) ; O'Keefe, J. A. (Contributor) ; Pandolfo, M. (Contributor) ; Ratai, E.-M. (Contributor) ; Reetz, K. (Contributor) ; Rylski, M. (Contributor) ; Santana, M. M. (Contributor) ; Sarro, L. (Contributor) ; Sestakauskas, K. (Contributor) ; Thieme, A. (Contributor) ; Timmann, D. (Contributor) ; Ying, S. H. (Contributor)

2026
Macmillan Publishers Limited, part of Springer Nature London

This record in other databases:    

Please use a persistent id in citations: doi:10.1038/s41582-026-01218-7

Abstract: Disease-modifying therapies for degenerative ataxias, including emerging gene therapies, are in the clinical trial pipeline. Sensitive outcome measures are urgently needed for treatment monitoring and participant selection to improve trial feasibility in these rare diseases. In hereditary ataxias, the ability to identify people who carry disease-causing mutations before symptom onset also raises the possibility of enrolment into trials before symptom manifestation, but biomarker data are key for participant selection and outcome monitoring in such preventive trials. Quantitative neuroimaging readouts have emerged as viable candidate biomarkers of ataxia pathology and progression that could supplement traditional clinical outcome assessments as clinical trial end-points. In this Consensus Statement, the Ataxia Global Initiative MRI Biomarkers Working Group critically reviews candidate MRI end-points for trials in the most common spinocerebellar ataxias (SCA1, SCA2 and SCA3) and Friedreich ataxia and provides evidence-based, disease-specific recommendations for the selection of MRI end-points for trials in these diseases. Recommendations are also provided for further research to address remaining knowledge gaps.

Keyword(s): Humans (MeSH) ; Magnetic Resonance Imaging: methods (MeSH) ; Magnetic Resonance Imaging: standards (MeSH) ; Clinical Trials as Topic: methods (MeSH) ; Clinical Trials as Topic: standards (MeSH) ; Biomarkers (MeSH) ; Ataxia: diagnostic imaging (MeSH) ; Ataxia: therapy (MeSH) ; Biomarkers

---

Contributing Institute(s):

1. Clinical Research Coordination (Clinical Research (Bonn))

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2026

---

Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; DEAL Nature ; Ebsco Academic Search ; Essential Science Indicators ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

---