PrePolyQ-SCA: Characterization of the presymptomatic stage in polyglutamine SCAs

Goal:
- Bring together and enlarge existing cohorts of presymptomatic mutation carriers and subjects at risk for spinocerebellar ataxia type 1, 2, 3 or 6.

Description:
Several new treatment options, in particular gene therapies, are on the horizon for spinocerebellar ataxias. As in other hereditary neurodegenerative diseases there is a presymptomatic phase before the clinical onset of the disease. This presymptomatic stage would be the anticipated window for preventive treatment options. Clinical scales are mostly lacking sensitivity in this stage. However, previous studies could identify several parameters, that have the potential to map disease activity already in the presymptomatic disease stage. These biomarker candidates include clinical examination features, disease related proteins, functional scales, electrophysiologic parameters, blood values and volumetric changes in the central nervous system The .aims will be to bring together and enlarge existing cohorts of presymptomatic mutation carriers and subjects at risk for spinocerebellar ataxia type 1, 2, 3 or 6. First, we will address the question of an optimized model to estimate the clinically defined disease onset as the essential reference time scale. Consequently, we will prove the potential of biomarker candidates in larger cohorts and establish disease models of the temporal evolution of those markers.

We are looking for: Even small cohorts of presymptomatic SCA1, 2, 3, and 6 mutation carriers.

We can help you out with: Joint analyses of presymptomatic mutation carriers in strong group sizes while providing Ataxia Global with an overview for targeted studies in presymptomatic mutation carriers and early information on the results of the pooled analyses.

Cohorts used SCA1, 2, 3, 6
Funding available? To be sought
Trial readiness category 3:  approaches directly translatable into treatment trials (key outcomes, trial-planning, or translational treatments)

Contact person:
Jennifer Faber
Dept. of Neurology, University Hospital Bonn & German Center for Neurodegenerative Diseases, Bonn, Germany.

Further project partners:
Laura Jardim
de Clínicas de Porto Alegre, Porto Alegre, Brazil
Thomas Klockgether
University Hospital Bonn & German Center for Neurodegenerative Diseases, Bonn, Germany
Manuela Lima
Universidade dos Açores, Ponta Delgada, Portugal
Caterina Mariotti
Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
Bart van de Warrenburg
Radboud university medical center, Nijmegen, The Netherlands
Heike Jacobi
University Hospital Heidelberg, Heidelberg, Germany