Department of Emergency Medicine, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place, Box 1620, New York, NY, 10029, USA.
RTI International, Research Triangle Park, Durham, NC, USA.
Orphanet J Rare Dis. 2020 Jul 7;15(1):178. doi: 10.1186/s13023-020-01457-x.
Sickle cell disease (SCD) is an autosomal recessive blood disorder affecting approximately 100,000 Americans and 3.1 million people globally. The scarcity of relevant knowledge and experience with rare diseases creates a unique need for cooperation and infrastructure to overcome challenges in translating basic research advances into clinical advances. Despite registry initiatives in SCD, the unavailability of descriptions of the selection process and copies of final data collection tools, coupled with incomplete representation of the SCD population hampers further research progress. This manuscript describes the SCDIC (Sickle Cell Disease Implementation Consortium) Registry development and makes the SCDIC Registry baseline and first follow-up data collection forms available for other SCD research efforts.
Study data on 2400 enrolled patients across eight sites was stored and managed using Research Electronic Data Capture (REDCap). Standardized data collection instruments, recruitment and enrollment were refined through consensus of consortium sites. Data points included measures taken from a variety of validated sources (PHENX, PROMIS and others). Surveys were directly administered by research staff and longitudinal follow-up was coordinated through the DCC. Appended registry forms track medical records, event-related patient invalidation, pregnancy, lab reporting, cardiopulmonary and renal functions.
The SCDIC Registry strives to provide an accurate, updated characterization of the adult and adolescent SCD population as well as standardized, validated data collecting tools to guide evidence-based research and practice.
镰状细胞病（SCD）是一种常染色体隐性遗传病，影响大约 10 万名美国人和全球 310 万人。由于相关知识的匮乏和对罕见病经验的不足，需要开展合作并构建基础设施，以克服将基础研究进展转化为临床进展所面临的挑战。尽管 SCD 已经有了登记处倡议，但缺乏对选择过程的描述和最终数据收集工具副本的描述，再加上 SCD 人群代表性不完整，阻碍了进一步的研究进展。本文描述了 SCDIC（镰状细胞病实施联盟）登记处的发展，并提供了 SCDIC 登记处基线和首次随访数据收集表格，供其他 SCD 研究工作使用。
通过 Research Electronic Data Capture（REDCap）存储和管理了来自八个地点的 2400 名入组患者的研究数据。通过联盟各站点的共识，对标准化数据收集工具、招募和入组进行了改进。数据点包括来自各种经过验证的来源（PHENX、PROMIS 等）的测量值。调查问卷由研究人员直接进行管理，通过 DCC 协调进行纵向随访。附加的登记表格跟踪病历、与患者失效相关的事件、妊娠、实验室报告、心肺和肾功能。
SCDIC 登记处努力提供对成年和青少年 SCD 人群的准确、最新描述，以及标准化、经过验证的数据收集工具，以指导基于证据的研究和实践。
