Cerebrospinal fluid metabolomics reveals predictive biomarkers of nusinersen therapy efficacy in type II and type III spinal muscular atrophy patients.

ABSTRACT:

Background and purpose

This study investigated the predictive value of clinical characteristics and cerebrospinal fluid (CSF) metabolites for nusinersen efficacy in children with spinal muscular atrophy (SMA).

Methods

In this study, clinical data and CSF samples were collected. We used liquid chromatography-tandem mass spectrometry to analyze CSF metabolites from 42 patients with type II and type III SMA.

Results

Although clinical indicators, such as age at treatment initiation and disease duration, did not predict the clinical efficacy of nusinersen, we identified 47 differentially expressed metabolites between effective- and ineffective-treatment patients with type II disease and 109 metabolites in patients with type III disease. Additionally, KEGG-enriched pathway

SUBMITTER: Li D 

PROVIDER: S-EPMC12488785 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature