Three separate groups of researchers have published the results of their work on biomarkers present in the cerebrospinal fluid (CSF) of patients with SMA, and their relevance to innovative therapies:
- Italian scientists have identified changes in protein profiles in the CSF of ten type III SMA patients treated for two years with nusinersen,
- a Romanian team has demonstrated the value of measuring neurofilaments in CSF before and after treatment, particularly in infants with type I SMA treated with nusinersen,
- South Korean researchers have confirmed the value of studying these neurofilaments in severe forms of SMA treated with nusinersen.
Although imperfect and limited in scope, these studies provide solid arguments for the detection of biomarkers in the follow-up of SMA patients undergoing treatment.
