A recent study investigated potential treatment biomarkers of spinal muscular atrophy (SMA) type 3

A recent study published on the Journal of Cellular and Clinical Medicine and conducted by the researchers of the Centro Dino Ferrari, University of Milan, IRCCS Fondazione Ca ‘Granda Ospedale Maggiore Policlinico, in collaboration with colleagues from the University of Pisa, investigated potential treatment biomarkers of spinal muscular atrophy (SMA) type 3.

Nusinersen is an antisense oligonucleotide that has recently been licensed in Europe and United States for the treatment of SMA. This therapy is highly effective for SMA type 1. Since SMA type 3 is characterized by variable phenotype and milder progression, biomarkers of early treatment response are urgently needed. This study investigated the cerebrospinal fluid (CSF) concentration of neurofilaments in SMA type 3 patients treated with Nusinersen as a potential biomarker of treatment efficacy.

The concentration of neurofilaments was evaluated before and after six months since the first Nusinersen administration. Clinical evaluation of SMA patients was performed with standardized motor function scales. Baseline neurofilament levels in patients were comparable to controls, but significantly decreased after six months of treatment, while motor functions were only marginally ameliorated. No significant correlation was observed between the change in motor functions and that of neurofilaments over time. The reduction of neurofilament levels suggests a possible early biochemical effect of treatment on axonal degeneration, which may precede changes in motor performance.


Faravelli I, Meneri M, Saccomanno D, Velardo D, Abati E, Gagliardi D, Parente  V, Petrozzi L, Ronchi D, Stocchetti N, Calderini E, D’Angelo G, Chidini G, Prandi E, Ricci G, Siciliano G, Bresolin N, Comi GP, Corti S, Magri F, Govoni A.

Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients. J Cell Mol Med. 2020 Feb 7. doi: 10.1111/jcmm.14939. [Epub ahead of print] PubMed PMID: 32032473.