Serum creatinine to cystatin C ratio as a biomarker for monitoring motor-function in children with spinal muscular atrophy treated with nusinersen: a retrospective cohort study.

ABSTRACT:

Objective

To validate the clinical utility of creatinine-to-cystatin C ratio (CCR) as a biomarker for monitoring nusinersen treatment response in Chinese paediatric patients receiving nusinersen monotherapy.

Methods

In this retrospective, single-center study, 33 genetically confirmed 5q-SMA patients (≤ 18 years) treated with intrathecal nusinersen for ≥ 26 months (2020.2-2025.6) were enrolled. Motor function was serially evaluated using the Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and Hammersmith Infant Neurological Exam Part 2 (HINE-2). Serum biomarkers, such as creatinine (Cr), creatine kinase (CK), and cystatin C, were measured at multiple time points. A linear mixed-effects model (adjusted for age, body mass index, SMA type,

SUBMITTER: Zhang YY 

PROVIDER: S-EPMC12910726 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature