Abstract
The severity of each organ involvement, natural course, and response to therapies are extremely heterogeneous among patients with systemic sclerosis (SSc). The discovery and validation of biomarkers can help identify disease risk, improve early diagnosis and prognosis, better design clinical trials and assess response to treatment, and further elucidate the underlying pathogenic mechanisms of this disease. The goal of this review is to summarize recent advances into the field of SSc biomarker development. The use of both traditional and next-generation techniques, including large-scale transcriptomic, epigenomic, and proteomic technologies, has yielded a slew of new candidate biomarkers that correlate with different SSc clinical phenotypes. Recent evidence indicates that skin gene expression-based pharmacodynamic biomarkers have the potential to be employed as surrogate measures of clinical endpoints (i.e. modified Rodnan skin thickness score) providing objective assessment of response in clinical trials. Several promising biomarkers addressing key unmet needs related to the evaluation and management of SSc patients have been recently proposed. Nevertheless, these biomarkers still require rigorous validation in prospective studies and have yet to make their way into clinical practice and therapeutic development. Robust biomarkers, ideally mechanistic ones, are needed to enable precision medicine in SSc.
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