Abstract
An informative biomarker is any biological characteristic that can be objectively measured and predicts a future clinical outcome. Spinal muscular atrophy (SMA) biomarkers can be broadly divided into those that involve the survival motor neuron 1 (SMN1) gene and those that do not. SMN2 gene copy number is a good prognostic biomarker that has a meaningful clinical application and is useful in the design of SMA clinical trials. SMN mRNA and protein levels and non-SMN molecular biomarkers can be measured in biological samples; however, their utility as biomarkers in clinical trials is less clear. Electrophysiological biomarkers, such as compound muscle action potential and motor unit number estimation, report the functional integrity of the motor neuron, correlate with motor function, and have the potential to be predictive biomarkers in SMA clinical trials. Electrical impedance myography and ultrasound report indirectly on the health of the motor unit and have potential as informative SMA biomarkers.
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