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镰状细胞病血管闭塞性危象的以患者为中心模型——一项针对患者和专家的共识活动成果

A Patient Centric Model for Vaso-Occlusive Crises in Sickle Cell Disease-Outcomes of a Consensus Exercise Conducted Across Patients and Experts.

作者信息

Nandi Pooja, Ellis Robert, Deshpande Ankita

机构信息

Koneksa Health, New York, New York, USA.

Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA.

出版信息

Clin Transl Sci. 2025 Apr;18(4):e70197. doi: 10.1111/cts.70197.

Abstract

Sickle cell disease (SCD) is a group of inherited disorders caused by a mutation in the beta globin gene that leads to sickling of red blood cells and results in anemia and Vaso-occlusive crises (VOC). VOC are described as an acute worsening of symptoms impacting daily life and often requiring treatment to resolve. A majority of SCD interventional trial endpoints consider VOC that require attendance at a health facility and do not account for VOC managed at home. These studies report lower VOC incidence compared to those that consider VOC managed both in the healthcare setting and at home. This presents challenges to the consistent and accurate assessment of treatment effect in reducing overall VOC count. This paper outlines a USA consensus exercise conducted with patients and a scientific expert review committee to develop a patient-centric VOC model that may apply across incidences, individuals, and treatment settings. The model is supported by a monitoring biomarker specification for the objective identification and classification of VOC taking place in the healthcare setting and at home. We additionally propose hardware, software, diaries, and patient-reported outcomes for an initial instrument design to evaluate the potential of the model in a validation study.

摘要

镰状细胞病(SCD)是一组由β珠蛋白基因突变引起的遗传性疾病,该突变导致红细胞镰变,进而引发贫血和血管闭塞性危机(VOC)。VOC被描述为影响日常生活的症状急性加重,通常需要治疗才能缓解。大多数SCD干预试验终点考虑的是需要到医疗机构就诊的VOC,而没有考虑在家中处理的VOC。与那些同时考虑在医疗机构和家中处理的VOC的研究相比,这些研究报告的VOC发生率较低。这给一致且准确地评估治疗效果以降低总体VOC计数带来了挑战。本文概述了一项在美国与患者及科学专家评审委员会共同开展的共识活动,旨在开发一个以患者为中心的VOC模型,该模型可能适用于不同的发病率、个体和治疗环境。该模型得到了一个监测生物标志物规范的支持,用于对在医疗机构和家中发生的VOC进行客观识别和分类。我们还为初步仪器设计提出了硬件、软件、日记和患者报告的结果,以在验证研究中评估该模型的潜力。

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