Biomarkers For SMA Clinical Study Published

24 May 2012

The results from the Biomarkers for SMA (BforSMA) clinical study have been published in the open access, scientific journal PLoS One.

Medical biomarkers, such as the levels of a particular protein in blood, can be used to indicate the state of progression of a disease, and hence can help to determine whether a drug or therapy is having a desired positive effect in clinical trials.

No reliable biomarkers for SMA have been previously discovered, so the aim of the BforSMA study was to identify a set of biomarkers that correlate well with the severity of the disease.

108 children aged 2-12 with a broad range of SMA severity (17 Type I, 49 Type II, 42 Type III) were enrolled in a single evaluation study performed in 18 centres across North America. Blood and urine samples were collected from patients and 22 healthy, age-matched control donors, and then analysed for their protein,metabolite (small molecules produced by metabolism) and gene transcript (messenger RNA) content.

Using gross motor function as assessed by the Modified Hammersmith Functional Motor Scale (MHFMS) as the primary outcome measure (along with a number of secondary clinical measures), a total of 200 candidate biomarkers were shown to correlate with MHFMS score. These included 97 proteins and 59 metabolites found in plasma (the liquid component of blood), and 44 urine metabolites.

The data from the study are now publicly available at

In collaboration with the SMA Foundation, Myriad RBM has launched a biomarker panel (SMA-MAP) based on the findings from this study (which was recently reported on for the Jennifer Trust; for furthr information click here).

Achieving this important milestone in SMA research will facilitate the assessment of potential therapies for SMA in clinical trials. Not only that, but the biomarkers may also help to identify important genetic pathways involved in the disease and thus additional targets for potential therapies.

Further Information

The PLoS One publications

Article on the BforSMA study on the FSMA website