ArticleClinical proteomics2026
Quantitative tandem mass tag-based serum proteomics for longitudinal biomarker monitoring in Duchenne muscular dystrophy.
Article in Clinical proteomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01603407 (Duchenne Muscular Dystrophy), which is not on this map. Not yet cited in PubMed.
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The trial behind it
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Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen
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13 authors.
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Abstract
backgroundDuchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized by progressive and severe muscle degeneration. Motor function tests are commonly used to evaluate treatment efficacy in clinical trials. However, they are subject to interobserver variability and may lack sensitivity for detecting early changes in disease progression. These limitations highlight the need for blood-based biomarkers to monitor disease status and progression. In this study, we used tandem mass tag-based mass spectrometry to quantify proteins in longitudinal serum samples from patients with DMD and to identify proteins associated with motor function performance.
methodsSerum samples collected at three time points (baseline, 12, and 24 months) were obtained from participants in the FOR-DMD trial (NCT01603407) and processed for multiplexed analysis using TMT 6-plex isobaric tags and LC-MS/MS. Protein intensities were log2-transformed and analyzed using linear mixed-effects models to assess their associations with age and repeated functional outcome measurements, such as the North Star Ambulatory Assessment (NSAA) score, 6-minute walk test (6MWT), rise from supine velocity (RSV), and 10-meter run/walk velocity (10mRWV). P-values were adjusted for multiple comparisons, with FDR < 0.05 considered statistically significant.
resultsMixed-model analysis identified 22 proteins associated with age and 77 proteins associated with at least 1 functional outcome, including 26 associated with 2 clinical outcomes after FDR correction. Most associations were observed with NSAA (73 proteins), followed by the 6MWT (28 proteins) and RSV (3 proteins). These proteins spanned multiple disease-relevant categories, including muscle-associated proteins, extracellular matrix (ECM), complement and inflammatory pathways, coagulation/hemostasis, carrier proteins, proteolysis, and cell adhesion.
conclusionUsing longitudinal serum proteome profiles and clinical outcome data, we identified proteins that associate with age and functional outcomes, particularly NSAA and 6MWT, highlighting key molecular pathways in DMD disease progression.
trial registrationThe FOR-DMD clinical trial was registered on ClinicalTrials.gov (registration no. NCT01603407). First submission: 03/04/2012.
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