Paradoxical increase of neurofilaments in SMA patients treated with onasemnogene abeparvovec-xioi.

ABSTRACT:

Background/objective

Neurofilament light chain (NfL) has been proposed as a biomarker reflecting disease severity and therapy response in children with spinal muscular atrophy type 1 and 2 (SMA1 and 2). The objective of this study was to examine how serum NfL changes after gene replacement therapy (GRT) with onasemnogene abeparvovec-xioi.

Methods

We measured NfL in serum probes from 19 patients (10 SMA 1 and 6 SMA 2; 15 previously treated with nusinersen or risdiplam; 12 male) before and at variable time points after GRT. These values were related to motor scores (CHOP-Intend, HFMSE and RULM).

Results

Median age at GRT was 19 months (range 2-46 months). Median NfL of all patients before GRT was 39 pg/ml (range 0-663 pg/ml; normal values <25 pg/ml), increased significa

SUBMITTER: Flotats-Bastardas M 

PROVIDER: S-EPMC10756901 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature