SMA Foundation completes biomarker study for Spinal Muscular Atrophy

The Spinal Muscular Atrophy (SMA) Foundation, a nonprofit organization dedicated to accelerating the development of a treatment for SMA, is pleased to announce the completion of a pilot study to identify Biomarkers for Spinal Muscular Atrophy (BforSMA) and the discovery of over 400 candidate biomarkers. Next steps in confirming and validating these candidate biomarkers are currently being pursued in conjunction with contract research organizations, academic collaborators, and industry partners.

The goal of the BforSMA study was to identify a potential biomarker or panel of biomarkers that could be used as measures of SMA disease severity and might also be used to evaluate drug efficacy and shorten the duration of clinical trials. The New England Research Institutes (NERI) coordinated the 130 volunteers and 18 clinical sites in North America that participated in the study. The dedication and attention to detail of these study participants enabled the identification of this large pool of candidate markers in a remarkably short timeframe.

"The purpose of the study was to perform an unbiased search for biomarkers for SMA, and we are pleased to announce that we were able to do so. We are excited to share the results from the study and hope that these candidate biomarkers will generate new ideas and facilitate the development of SMA therapeutics," said Karen Chen, Ph.D., the Chief Scientific Officer of the Foundation.

BG Medicine Inc was the primary partner in biomarker discovery and data mining efforts for the program. Subject specimens collected during the clinical trial were analyzed by BG Medicine, Expression Analysis and Assay Designs Inc. using proteomic, metabolomic, and transcriptomic technologies. Over 1000 analytes were measured and 490 were identified as markers in at least one outcome measure.

The SMA Foundation plans to continue work to validate a shorter list of plasma protein biomarkers for use by the research community.

"None of this would be possible without the hard work and support from the SMA families, clinical sites, and our analytical partners. The success of this study is truly a testament to the cohesiveness and readiness of the SMA community," said Cynthia Joyce, Executive Director of the SMA Foundation and Project Leader of the BforSMA Study.

Source: Spinal Muscular Atrophy Foundation