Biomarkers for Spinal Muscular Atrophy Progression Identified

A new research paper published in Annals of Clinical and Translational Neurology reveals promising biomarkers for disease progression assessment of spinal muscular atrophy (SMA) in infants, as well as monitoring of treatment effectiveness. The paper is titled “Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.”

Early diagnosis of SMA can greatly influence disease treatment, but it is difficult to assess treatment results in clinical trials involving infants mainly due to result measurement constraints in very young babies. The study, led by Dr. Stephen Kolb and funded by the Cure SMA organization, wanted to identify biomarkers that could help researchers and physicians determine the treatment response in infant patients as well as study disease history progression.

The researchers enrolled 26 SMA infants and 27 healthy infants as controls, all less than 6 months of age, recruited from 14 centers within the NINDS National Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) Network. Motor function and electrophysiological, protein and molecular biomarkers were all measured at the beginning (baseline) of the study and in subsequent visits.

Results revealed that, at the time of recruitment, motor function was already significantly reduced in SMA infants compared to the healthy controls. Researchers also identified other indicators that were altered and significantly reduced in the SMA patients, namely Ulnar compound muscle action potential amplitude (CMAP), electrical impedance myography (EIM), blood survival motor neuron (SMN) mRNA levels, and several serum protein analytes.

The study will now continue to gather more data to further validate the multicenter findings in this paper, the first study of several to follow.

“We are thrilled to have the support of Cure SMA, who are a critical partner in our efforts to inform the SMA community about this study and have provided essential funding support that will have a positive impact on the quality of data that will be generated by this study,” Kolb said in a press release.