NEW YORK, NY | May 4, 2012 – The Spinal Muscular Atrophy (SMA) Foundation congratulates the members of the Pilot Study of Biomarkers for Spinal Muscular Atrophy (BforSMA) Trial Group for the recent publication of study results in two articles published by the open-access, peer-reviewed journal, PLoS ONE.
The goal of the BforSMA study was to identify potential biomarkers, or a panel of biomarkers, that could be used as measures of SMA disease severity and might also be used to assess drug efficacy and shorten the duration of clinical trials. At 18 clinical sites across North America, a cross-sectional single, evaluation of blood and urine was performed in 108 pediatric patients with SMA between the ages of 2 and 12 years old, as well as 22 age-matched control subjects.
The “Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study” by Richard Finkel MD et al. described a prospective biomarker discovery effort that identified analytes associated with a primary measure of disease severity, the Modified Hammersmith Functional Motor Scale (MHFMS), and a number of secondary clinical measures. A total of 200 candidate biomarkers correlated with MHFMS scores: 97 plasma proteins, 59 plasma metabolites and 44 urine metabolites markers. The “Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study” by Thomas Crawford MD et al. reported on the relationship between SMN protein, transcript level and SMN2 copy number. Additionally, the study evaluated whether these SMN measurements are associated with SMA clinical type, motor function and age.
The complete datasets from these studies are available through the publicly accessible SMA Biomarkers database at http://neuinfo.org/smabiomarkers/.
As a result of the BforSMA study discovery effort, a panel of 27 validated plasma protein biomarkers was created by Myriad RBM in collaboration with the SMA Foundation. The SMA-MAP panel is now available at Myriad RBM.
The biomarkers identified through the BforSMA studies may provide SMA researchers with a quantitative tool to measure disease progression and the efficacy of potential therapeutics for SMA.
If you are interested in a selection of recent articles published in the SMA field, please go to http://www.smafoundation.org/research/library/.