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Objective <p>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.</p> Methods <p>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, and treatment duration) was used to assess the biomarker–function associations.</p> Results <p>Ambulant patients and those with four SMN2 copies demonstrated elevated CCR and Cr levels compared to non-ambulant patients and those with three SMN2 copies at baseline. Serum CCR levels were significantly higher than the baseline at V4–V8 (10-26 months). Cr levels were significantly higher than the baseline at V8 (26 months), whereas CK and cystatin C levels remained unchanged. In the fully adjusted linear mixed-effects models, both CCR and Cr were positively associated with HFMSE and RULM scores. However, only CCR remained significant after adjustment. Cystatin C levels were inversely correlated with the HINE-2 scores. </p> Conclusion <p>CCR is a promising biomarker in paediatric SMA patients receiving nusinersen monotherapy; however, its validity and generalizability require confirmation in larger, more diverse multicenter cohorts.</p>

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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

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  • 发表日期：

    2026年1月24日

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  • Yuan yuan Zhang,
  • Jie Wang,
  • Zhen qiong Cui,
  • Kai Ma

摘要

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, and treatment duration) was used to assess the biomarker–function associations.

Results

Ambulant patients and those with four SMN2 copies demonstrated elevated CCR and Cr levels compared to non-ambulant patients and those with three SMN2 copies at baseline. Serum CCR levels were significantly higher than the baseline at V4–V8 (10-26 months). Cr levels were significantly higher than the baseline at V8 (26 months), whereas CK and cystatin C levels remained unchanged. In the fully adjusted linear mixed-effects models, both CCR and Cr were positively associated with HFMSE and RULM scores. However, only CCR remained significant after adjustment. Cystatin C levels were inversely correlated with the HINE-2 scores.

Conclusion

CCR is a promising biomarker in paediatric SMA patients receiving nusinersen monotherapy; however, its validity and generalizability require confirmation in larger, more diverse multicenter cohorts.