Sickle Cell Disease Natural History Data Resource (SCD NHDR)

**Background** The NHLBI initiated the Sickle Cell Disease Natural History Data Resource (SCD NHDR) to leverage existing SCD studies to build a data resource to provide phenotypic data on contemporaneous control cohorts for gene therapy trials and other studies. The potential uses of the NHDR are broad, including providing matched controls for clinical trials, observing a cohort of untreated patients as part of a natural history study, or conducting comparative effectiveness research on a subpopulation with selected co-morbidities or drug treatment profiles. The SCD NHDR includes two multi-center SCD longitudinal cohort studies with extensive annual clinical data and patient surveys, the Sickle Cell Disease Implementation Consortium (SCDIC-I and SCDIC-II) and the Globin Research Network for Data and Discovery (GRNDaD). The SCDIC-I, initiated in 2017 and concluded in June 2022, enrolled over 2400 patients with SCD from 8 US treatment centers. The SCDIC-II reconsented 1220 of the SCDIC-I patients as well as enrolling an additional 450 new patients from the same 8 centers between September 2022 and October 2023, for a total of 1670 in SCDIC-II. Only two of the many GRNDaD centers are submitting data to the SCD NHDR for deposit into BDC (approximately 130 patients). Data submissions from the SCD NHDR to BDC will be annually starting in early 2024. **Description of the Study Data ** All data obtained for the SCD NHDR are considered common data elements (CDEs) important for studies of SCD. These CDEs were identified from several workgroups of SCD experts convened under the NHLBI's [Cure-SC](https://curesickle.org/cde-catalog) Initiative ([https://curesickle.org/cde-catalog](https://curesickle.org/cde-catalog)). The following types of data elements were abstracted from the medical record – variables that describe the SCD diagnosis, SCD co-morbidities and other clinical complications, elements from the physical examination, medications and transfusions, insurance type, laboratory measurements, healthcare utilization, history of SCD-related procedures, and measurements from cardiac procedures. The following types of data were self-reported on the patient survey – demographics, diagnosis information, pain experience, social and mental health information, other patient reported outcome domains (e.g., sleep, fatigue), and alcohol and smoking history. Standard PRO measures were used from ASCQ-Me, PROMIS and Neuro-QoL. Patient surveys were completed approximately annually. Under SCDIC-I, two medical record abstractions and labs were reported at enrollment and approximately 3 years later. Under SCDIC-II and GRNDaD, all data are collected annually. Patients may refuse to complete the survey.**背景** 美国国家心肺血液研究所（National Heart, Lung, and Blood Institute, NHLBI）启动镰状细胞病自然史数据资源（Sickle Cell Disease Natural History Data Resource, SCD NHDR）项目，旨在整合现有镰状细胞病（Sickle Cell Disease, SCD）研究资源，构建标准化数据平台，为基因治疗试验及其他相关研究提供同期对照队列的表型数据。本数据资源的应用场景广泛，包括为临床试验提供匹配对照队列、将未经治疗的患者队列作为自然史研究对象、针对合并特定共病或用药特征的亚群开展临床有效性比较研究等。 SCD NHDR包含两项多中心镰状细胞病纵向队列研究，均采集了详实的年度临床数据与患者问卷数据，分别为镰状细胞病实施联盟（Sickle Cell Disease Implementation Consortium, SCDIC-I与SCDIC-II）以及球蛋白研究网络数据与发现项目（Globin Research Network for Data and Discovery, GRNDaD）。其中SCDIC-I于2017年启动，2022年6月结题，从美国8家治疗中心入组超2400名镰状细胞病患者。SCDIC-II于2022年9月至2023年10月期间，对1220名原SCDIC-I患者进行了重新知情同意，并从同一8家中心新增入组450名新患者，最终SCDIC-II队列总规模达1670人。目前仅有GRNDaD项目下属的2家中心向SCD NHDR提交数据以存入BDC，共涉及约130名患者。SCD NHDR向BDC的数据提交工作将于2024年初启动，并按年度持续更新。 **研究数据说明** 所有用于SCD NHDR的采集数据均属于镰状细胞病研究的核心通用数据元素（Common Data Elements, CDEs）。这些通用数据元素由美国国家心肺血液研究所下属的「Cure-SC」倡议（https://curesickle.org/cde-catalog）召集的多名镰状细胞病专家工作组共同确定。 从医疗记录中提取的数据元素包括：镰状细胞病诊断、共病及其他临床并发症相关变量、体格检查指标、用药与输血情况、保险类型、实验室检测结果、医疗服务利用情况、镰状细胞病相关手术史以及心脏检查相关指标。 患者问卷采集的自我报告数据包括：人口统计学信息、诊断相关信息、疼痛体验、社会与心理健康状况、其他患者报告结局领域（如睡眠、疲劳）以及饮酒与吸烟史。本研究采用了来自ASCQ-Me、PROMIS及Neuro-QoL的标准化患者报告结局（Patient-Reported Outcome, PRO）量表。 患者问卷的完成周期约为每年1次。在SCDIC-I项目中，共开展2次医疗记录提取与实验室数据采集，分别为入组时与入组后约3年。而在SCDIC-II与GRNDaD项目中，所有数据均按年度采集。患者有权拒绝完成问卷。