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.