A cross-sectional and longitudinal evaluation of serum creatinine as a biomarker in spinal muscular atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by proximal muscle weakness and atrophy. The increasing availability of disease-modifying therapies has prompted the development of biomarkers to facilitate clinical assessments. We explored the association b...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2024-12, Vol.19 (1), p.489-9, Article 489
Main Authors: Zhao, Xin, Gong, Zhenxiang, Luo, Han, Li, Zehui, Gao, Rong, Yang, Kangqin, Deng, Wenhua, Peng, Sirui, Ba, Li, Liu, Yang, Zhang, Min
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological markers
Biomarkers
Biomarkers - blood
Case studies
Child
Creatinine
Creatinine - blood
Cross-Sectional Studies
Female
Health aspects
Humans
Longitudinal Studies
Male
Medical research
Medicine, Experimental
Muscular Atrophy, Spinal - blood
Nusinersen
Physiological aspects
Spinal muscular atrophy
Young Adult
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Summary:Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by proximal muscle weakness and atrophy. The increasing availability of disease-modifying therapies has prompted the development of biomarkers to facilitate clinical assessments. We explored the association between disease severity and serum creatinine (Crn) levels in SMA patients undergoing up to two years of treatment with nusinersen. We measured serum Crn levels and assessed function performance using the Hammersmith Functional Motor Scale-Expanded (HFMSE), Medical Research Council Scale (MRC), 6-Minute Walk Test (6MWT), ulnar Compound Muscle Action Potential (CMAP), and forced vital capacity (FVC) in a cohort comprising 28 adolescent and adult patients with SMA. The association between Crn and disease severity was investigated through partial rank correlation analysis and linear mixed models while accounting for age, gender, and BMI. Linear models were employed to predict functional performance. 28 SMA patients and 28 gender- and age-matched healthy controls (HCs) were included, resulting in a dataset of 185 visits. Compared to HCs, SMA patients exhibited significantly lower Crn values ​​(67.4 ± 14 vs. 23.7 ± 14.8 umol/L, p
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-024-03515-0