Identification and characterization of biomarkers from blood plasma and CSF of spinocerebellar ataxia-1 (SCA1) patients: alignment with imaging and natural history studies

- Identify, validate and align biomarkers for SCA1

The goal of this project is to reach clinical trial readiness for SCA1, especially as ATXN1 lowering therapies show promise in preclinical models. Current clinical trials are limited by the lack of biomarkers, in particular fluid biomarkers. We propose to identify, validate and align biomarkers building on our substantial preclinical data. Liquid biomarkers will then be aligned with MRI based imaging and natural history studies. We will be using techniques including single molecule array technology (SIMOA) and meso scale discovery (MSD) methods to identify biomarker proteins from the plasma and CSF of healthy controls and SCA1 patients.

Cohorts used SCA1 (could be extended to SCA2, 3, and 7)
Funding available? To be sought
Trial readiness category 2: setting the stage for trial readiness (general cohorts, outcome measures or treatment approach identification)

Contact person:
Puneet Opal
Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA

Further project partners:
Giulia Coarelli
Sorbonne University, Paris, France
Alexandra Durr
Sorbonne University, Paris, France
Gülin Öz
University of Minnesota, Minneapolis, USA