A biomarker is any indicator of a biologic state, disease process, or drug response. Biomarkers are critical for therapeutics development because they can provide indications of the biological pathways in the disease process, the progression of the disease, and the efficacy of potential treatments. For example, blood glucose levels provide an indication of disease control in diabetes and a rapid measure of a patient response to a diabetes drug. The SMA Foundation has invested nearly $5M in identifying SMA biomarkers in the Biomarkers for SMA (BforSMA) study (completed in 2010), and in follow-on studies in progress now. The data, tools, and sample collections from these efforts lay some of the groundwork for future studies that will be supported through the NEXT SMA Biomarker program announced by the National Institutes of Health.
The BforSMA study was a prospective study involving more than 100 SMA patients of varying severity, enrolled at 18 sites across North America (mapped below). Comprehensive measurements of biochemical and molecular entities in blood and urine were correlated with motor performance, as assessed by the Modified Hammersmith Functional Motor Scale (MHFMS), and secondary measures, such as SMN2 copy number, body mass, walking time scores, nutritional status, and respiratory function. Candidate biomarkers were identified that significantly differentiated between disease and control groups and that correlated with SMA disease severity. The top 35 hits from the proteomics analysis were used to produce a multiplex immunoassay panel by Rules Based Medicine using their custom MAP technology. A custom SMA-MAP panel is now commercially available. All of the data collected for this study are now available to the research community through the BforSMA Data Portal developed in conjunction with the SMA Foundation by the Neuroscience Information Framework at the University of California, San Diego.
Map of BforSMA Clinical Sites