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Review

Duchenne Muscular Dystrophy: recent advances in protein biomarkers and the clinical application

Pages 365-375 | Received 10 Apr 2020, Accepted 20 May 2020, Published online: 26 Jul 2020

Figures & data

Table 1. List of DMD biomarkers identified. The biomarkers are ranked based on the number of publications providing evidence for association of the biomarker with DMD. Biomarkers identified in both human and animal models are listed first, followed by biomarkers identified only in DMD patients and subsequently in only DMD animal models.

Figure 1. Biomarker development for DMD requires (1) discovery, (2) analytical validation, (3) clinical validation, and (4) qualification of biomarker. The discovery phase comprises formulation of the context of use, assessment of feasibility in terms of eg. samples resources, selection of appropriate analytical method, etc., discovery of the biomarker and confirmation in additional samples collections to assess reproducibility in several cohorts. The analytical validation phase includes orthogonal validation of the biomarker using different analytical methods, development of biomarker quantification assays for targeted analysis and validation of the biomarker quantification assay, to evaluate biomarker sensitivity, specificity, dynamic range, and variation using the developed quantification assay and refine the context of use. Clinical validation requires testing the specificity and sensitivity of the biomarker in clinical setup, development of clinical assays, assess the context of use, robustness and variability, and its utility in clinical practice.

Figure 1. Biomarker development for DMD requires (1) discovery, (2) analytical validation, (3) clinical validation, and (4) qualification of biomarker. The discovery phase comprises formulation of the context of use, assessment of feasibility in terms of eg. samples resources, selection of appropriate analytical method, etc., discovery of the biomarker and confirmation in additional samples collections to assess reproducibility in several cohorts. The analytical validation phase includes orthogonal validation of the biomarker using different analytical methods, development of biomarker quantification assays for targeted analysis and validation of the biomarker quantification assay, to evaluate biomarker sensitivity, specificity, dynamic range, and variation using the developed quantification assay and refine the context of use. Clinical validation requires testing the specificity and sensitivity of the biomarker in clinical setup, development of clinical assays, assess the context of use, robustness and variability, and its utility in clinical practice.