A specific metabolic profile probably useful as a biomarker in SMA

Whether it is to specify the different categories of SMA or to monitor the progress of treated patients, there is still a lack of biomarkers. German researchers have developed and tested a new approach based on the study of the metabolome in urine proton spectrometry. In their study:

  • twenty-nine patients with SMA and naïve to any innovative treatment were compared with 18 patients with Duchenne muscular dystrophy and 444 controls;
  • experience has been shown to be convincing in assessing the severity of the phenotypes;
  • this metabolic profile could also be of interest for the therapeutic choice in children screened at a presymptomatic stage.

 

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy. Saffari A, Cannet C, Blaschek A, et al. Orphanet J Rare Dis. 2021 Oct 20;16(1):441.