Recent advances in understanding Spinal Muscular Atrophy (SMA) etiopathogenesis prompted development of potent intervention strategies and raised need for sensitive outcome measures capable of assessing disease progression and response to treatment. Several biomarkers have been proposed; nevertheless, no consensus has been reached on the most feasible ones.
In this longitudinal one‐year study, the authors evaluated a wide range of measures including thigh muscle quantitative muscle MRI (qMRI), motor scales and molecular characteristics of nineteen Type‐III SMA patients in four distinct time points. They evaluated the ability of the biomarkers to detect changes in disease progression over 1 year, explored their ability to differentiate ambulant SMA patients from healthy volunteers (HV), quantified their reliability and responsiveness, and finally, examined their validity by relating it to widely established functional clinical scores.
Bonati U, Holiga Š, Hellbach N, et al. Longitudinal characterization of biomarkers for spinal muscular atrophy. Ann Clin Transl Neurol. 2017 Apr 11;4(5):292-304.
