SMA Biomarker Study To Be Launched This Spring

02 April 2012

The Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) is an initiative overseen by the United States National Institute of Neurological Disorders and Stroke (NINDS) that aims to facilitate clinical trials in neurological diseases. As one of its first projects, NeuroNEXT aims to identify biomarkers associated with hundreds of different neurological diseases and has announced that, starting this spring, SMA will be the first disease on which a clinical study to find biomarkers will be performed.

Medical biomarkers are biological indicators that can be objectively measured to inform us of the progress of a particular disease, pathogenic process or response to therapeutic intervention. For example, the amount of a particular protein found in a blood or urine sample may have a strong correlation with the phase of a disease; measuring the amount of this protein would then allow us to assess the severity and state of the disease. Therefore, reliable biomarkers can also help to determine whether drugs are having the desired positive effect on a disease, as the biomarkers should be responsive to effective treatments.

No dependable biomarkers have yet been discovered for SMA, which has been one of a number of barriers hindering clinical trials in the disease. However, if one were to be identified in the study starting this year, it could facilitate the implementation of Phase II clinical trials and accelerate the process of evaluating new therapies.

It should be noted that SMN2 copy number is not a biomarker for SMA. Having more copies of the SMN2 gene leads to more SMN protein being produced, which in turn reduces disease severity. However, SMN2 copy number remains constant and so only acts as a guide as to which type of SMA a patient is likely to develop, and not an indicator of disease state.

Further Information

Informative articles on the NeuroNEXT initiative can be found on the fSMA website at

NeuroNEXT website 

NINDS homepage