An Italian-American consortium of researchers studied the cerebrospinal fluid (CSF) of patients with spinal muscular atrophy (SMA) treated with intrathecal injections of nusinersen (Spinraza®) in two Italian reference centres:
- 12 patients with SMA type I, 7 with SMA type II and 8 with SMA type III were included in this study, which consisted in analysing their CSF at the first injection of nusinersen and then at the end of the loading dose (at D64),
- the CSFs were analysed by NMR spectroscopy to determine a metabolomic profile for each of them,
- these profiles varied according to the severity of the initial phenotype, with certain metabolic pathways being preferentially activated according to the type of SMA.
These results suggest different modes of action depending on the type of tissue(s) and organ(s) considered.
