Patients with spinal muscular atrophy type 3 had 2.2-fold higher serum creatinine levels compared to those with type 1, indicating that decreased creatinine reflects greater disease severity.
Cohort (n=238)
Yes
Does serum creatinine correlate with disease severity in patients with spinal muscular atrophy?
Serum creatinine levels correlate with disease severity and motor function in patients with spinal muscular atrophy, suggesting its utility as a simple prognostic biomarker for disease progression.
Effect estimate: 2.2-fold (95% CI 1.93-2.49)
p-value: p=<0.0001
Objective Identifying simple biomarkers that can predict or track disease progression in patients with spinal muscular atrophy (SMA) remains an unmet clinical need. To test the hypothesis that serum creatinine (Crn) could be a prognostic biomarker for monitoring progression of denervation in patients with SMA, we determined whether serum Crn concentration correlates with disease severity in patients with SMA. Methods We examined a cohort of 238 patients with SMA with 1,130 Crn observations between 2000 and 2016. Analyses were corrected for age, and 156 patients with SMA had dual-energy x-ray absorptiometry data available for correction for lean mass. We investigated the relationship between Crn and SMA type, survival motor neuron 2 (SMN2) copies, and Hammersmith Functional Motor Scale (HFMS) score as primary outcomes. In addition, we tested for associations between Crn and maximum ulnar compound muscle action potential amplitude (CMAP) and motor unit number estimation (MUNE). Results Patients with SMA type 3 had 2.2-fold (95% confidence interval CI 1.93–2.49; p p p SMN2 copies had 1.8-fold (95% CI 1.57–2.11; p SMN2 copies and 1.4-fold (95% CI 1.24–1.58; p SMN2 copies. Patients with SMA with 3 SMN2 copies had 1.4-fold (95% CI 1.21–1.56; p SMN2 copies. Mixed-effect model revealed significant differences in Crn levels among walkers, sitters, and nonsitters (p p p SMN2 copies, HFMS, CMAP, and MUNE. Conclusions These findings indicate that decreased Crn levels reflect disease severity, suggesting that Crn is a candidate biomarker for SMA progression. We conclude that Crn measurements should be included in the routine analysis of all patients with SMA. In future studies, it will be important to determine whether Crn levels respond to molecular and gene therapies.
Alves et al. (Sat,) conducted a cohort in Spinal muscular atrophy (n=238). Serum creatinine measurement vs. SMA type 1 was evaluated on Serum creatinine levels in SMA type 3 vs SMA type 1 (2.2-fold, 95% CI 1.93-2.49, p=<0.0001). Patients with spinal muscular atrophy type 3 had 2.2-fold higher serum creatinine levels compared to those with type 1, indicating that decreased creatinine reflects greater disease severity.