Longitudinal characterization of biomarkers for spinal muscular atrophy.

ABSTRACT:

Objective

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 general consensus has been reached on the most feasible ones. We observed a wide range of measures over 1 year to assess their ability to monitor the disease status and progression.

Methods

18 SMA patients and 19 healthy volunteers (HV) were followed in this 52-weeks observational study. Quantitative-MRI (qMRI) of both thighs and clinical evaluation of motor function was performed at baseline, 6, 9 and 12 months follow-up. Blood samples were taken in patients for m

SUBMITTER: Bonati U 

PROVIDER: S-EPMC5420809 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature