Sickle Cell Clinical Research and Intervention Program (SCCRIP): A lifespan cohort study for sickle cell disease progression from the pediatric stage into adulthood
Sickle Cell Clinical Research and Intervention Program (SCCRIP): A lifespan cohort study for sickle cell disease progression from the pediatric stage into adulthood
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DOI：
10.1002/pbc.27228
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发表时间：
2018-09-01
影响因子：
3.2
通讯作者：
Gurney, James G.
中科院分区：
文献类型：
--
作者：
Hankins, Jane S.;Estepp, Jeremie H.;Gurney, James G.
背景以前的自然史研究已经推进了对镰状细胞病（SCD）的理解，但通常没有包括足够的寿命数据或遗传学在临床结果中的作用的调查，并且通常发生在广泛使用疾病修饰疗法（如羟基脲和慢性红细胞输注）之前。为了进一步提高对SCD的认识，圣裘德儿童研究医院建立了镰状细胞临床研究和干预计划（SCCRIP），在一个临床评估的SCD个体队列中开展研究。SCCRIP研究于2014年启动，前瞻性招募了诊断为SCD的患者，包括回顾性和纵向收集临床、神经认知、地理空间、心理社会、和健康结果数据。生物样品被储存起来用于未来的基因组学和蛋白质组学研究。SCCRIP的组织结构是基于器官/系统特定的工作组，并开放给研究界的partnerships.ResultsAs八月2017，1,044（92.3%的合格）SCD患者已入组研究（860名儿童和184名成人），与11,915人-年的观察。人口统计数据包括末次访视时的平均年龄11.3岁（范围0.7-30.1），49.8%女性，57.7%接受羟基脲治疗，8.5%接受每月输血治疗，62.9%血红蛋白（Hb）SS或HbSB（0）-地中海贫血，25.7% HbSC，8.4% HbsB（+）-地中海贫血，1.7% HbS/HPFH，和1.2% other.ConclusionsThe SCCRIP队列将提供一个丰富的资源进行高影响力的多学科研究SCD。
BackgroundPrevious natural history studies have advanced the understanding of sickle cell disease (SCD), but generally have not included sufficient lifespan data or investigation of the role of genetics in clinical outcomes, and have often occurred before the widespread use of disease-modifying therapies, such as hydroxyurea and chronic erythrocyte transfusions. To further advance knowledge of SCD, St. Jude Children's Research Hospital established the Sickle Cell Clinical Research and Intervention Program (SCCRIP), to conduct research in a clinically evaluated cohort of individuals with SCD across their lifetime.ProceduresInitiated in 2014, the SCCRIP study prospectively recruits patients diagnosed with SCD and includes retrospective and longitudinal collection of clinical, neurocognitive, geospatial, psychosocial, and health outcomes data. Biological samples are banked for future genomics and proteomics studies. The organizational structure of SCCRIP is based upon organ/system-specific working groups and is opened to the research community for partnerships.ResultsAs of August 2017, 1,044 (92.3% of eligible) patients with SCD have enrolled in the study (860 children and 184 adults), with 11,915 person-years of observation. Population demographics included mean age at last visit of 11.3 years (range 0.7-30.1), 49.8% females, 57.7% treated with hydroxyurea, 8.5% treated with monthly transfusions, and 62.9% hemoglobin (Hb) SS or HbSB(0)-thalassemia, 25.7% HbSC, 8.4% HbsB(+)-Thalassemia, 1.7% HbS/HPFH, and 1.2% other.ConclusionsThe SCCRIP cohort will provide a rich resource for the conduct of high impact multidisciplinary research in SCD.