Launching a blood and spinal fluid based biomarker program for SCAs

There is a critical need for establishing objective, reliable and sensitive biomarkers will enhance our understanding of the natural history of spinocerebellar ataxias (SCAs), provide insights into pathophysiology, and most importantly improve our ability to perform well-powered interventional clinical trials using fewer patients and shorter time-lines. Current biomarker strategies in neurodegeneration fall into two broad categories (1) those based on brain imaging and (2) those based on detecting biochemical differences from bodily fluids such as CSF or blood. In this proposal we will take the lead in establishing a comprehensive biochemical biomarker program for the National Ataxia Foundation. This will involve establishing the operational infrastructure that will include regulatory materials (IRB, consent forms and standard operating procedures) and facilities for the collection and storage of blood and CSF. We will align the biomarker program with the NAF funded natural history studies that are being conducted at the CRC-SCA sites. Patient materials will be linked to the existing web-based CRC-SCA database to serve as a resource to the CRC-SCA consortium of investigators. The study is thus designed as operationalizing a biorepositary linked to observational, prospective, multi-center natural history study. Although the request is for one year, we are launching this initiative with the intention that it will become an open-ended, prospective study and will be self-supporting in the future by serving as a platform for clinical trials funded by disease foundations and philanthropy (including NAF), government funding agencies (such as the NIH), and pharmaceutical companies (in particular those entering the space of strategies to knock down gain of toxic proteins at the root of neurodegenerative disorders).