Ma Angela, Montesi Sydney B
Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114.
Curr Treatm Opt Rheumatol. 2025 Dec;11(1). doi: 10.1007/s40674-024-00221-7. Epub 2025 Jan 9.
Systemic sclerosis (SSc) is a rare immune-mediated connective tissue disease with high morbidity and mortality. Interstitial lung disease (ILD) is now the leading cause of death for patients with SSc. While several therapeutic agents have been approved for SSc-ILD, opportunities remain for a personalized medicine approach to improve patient outcomes. The purpose of this narrative review is to summarize the current state of personalized medicine for SSc-ILD and future directions to facilitate earlier diagnosis, disease stratification, prognostication, and determination of treatment response. We also review opportunities for personalized medicine approaches within clinical trial design for SSc-ILD.
The management of SSc-ILD remains challenging due to its variable clinical course and current deficits in predicting which individuals will develop progressive pulmonary fibrosis. There have additionally been many challenges in clinical trial design due to limitations in enrichment strategies. Emerging data suggest that serum, radiologic, and other novel biomarkers could be utilized to assess disease activity and treatment response on an individual level.
Personalized medicine is emerging as a way to address unmet challenges in SSc-ILD and has applicability for identifying stratifying, prognostic, and therapeutic markers for routine clinical care and clinical trial design.
系统性硬化症(SSc)是一种罕见的免疫介导的结缔组织病,发病率和死亡率都很高。间质性肺疾病(ILD)目前是SSc患者的主要死因。虽然已有几种治疗药物被批准用于治疗SSc-ILD,但采用个性化医疗方法改善患者预后仍有机会。本叙述性综述的目的是总结SSc-ILD个性化医疗的现状以及未来方向,以促进早期诊断、疾病分层、预后评估及治疗反应的判定。我们还将综述SSc-ILD临床试验设计中个性化医疗方法的机会。
由于SSc-ILD临床病程多变,且目前在预测哪些个体将发展为进行性肺纤维化方面存在不足,其管理仍然具有挑战性。此外,由于富集策略的局限性,临床试验设计也面临诸多挑战。新出现的数据表明,血清、影像学及其他新型生物标志物可用于在个体层面评估疾病活动度和治疗反应。
个性化医疗正在成为解决SSc-ILD中未满足挑战的一种方式,并且适用于识别常规临床护理和临床试验设计中的分层、预后及治疗标志物。