Sickle Pan-African Research Consortium (SPARCO) Uganda: Strengthening Capacity for Clinical Care, Research and Training in Sickle Cell Disease - SCRT Project.

项目摘要： 大多数（75%）镰状细胞病（SCD）患者分布在撒哈拉以南非洲（SSA），那里 这种疾病每年约占5岁以下儿童死亡率的16%（150 000人死亡）。在高收入 在2010年，控制SCD死亡率和发病率的循证战略使2011年减少了68%， 1983年和2002年0 - 3岁SCD儿童死亡率。这一成功是通过四个 干预措施：通过筛查尽早发现SCD;积极预防， 检测和治疗致命的并发症，特别是感染;使用羟基脲作为一种疾病- 改良剂;全面护理计划。乌干达是撒哈拉以南非洲国家之一， 镰状细胞（HbS）基因患病率为13%。SCD占乌干达儿童死亡率的18%， 据估计，50-80%患有这种疾病的儿童在五岁生日前死亡。部 儿科和儿童健康，马凯雷雷大学健康科学学院成立了镰状细胞诊所， 1968.该诊所有一个镰状细胞数据库，其中有超过10，000个独特的患者记录，每增加1000个 每年新注册。该团队已经制定了当地的SCD患者管理指南， 培训学生，除了进行高质量的研究项目和NIH资助的研究。有 然而，仍然存在的挑战包括：1）对所有患者的全面护理不足， 导致SCD相关发病率和死亡率的高负担。在乌干达进行的研究记录了 中风、神经认知障碍、急性胸部综合征和微量白蛋白尿的高患病率 在SCD儿童中。2)由于缺乏全面的新生儿筛查计划，许多儿童 在生命后期被诊断或在诊断前死亡，以及3）尽管研究结果表明， 在这种情况下使用安全有效。马凯雷雷大学的团队正在申请加入镰刀队 泛非研究联合会（SPARCO）作为合作联合会新网站之一， 改善乌干达SCD患者健康状况的目标， 实施循证干预措施。我们将充分利用资源，吸取经验教训， NIH在乌干达的投资，包括H3非洲生物储存库（UH 2 HG 007051; Joloba），MEPI项目 （R24 TW 008886，Sewankambo）和其他正在进行的赠款，包括HEPI项目（1 R25 TW 011213 -01， Kiguli）来实现这一点。该项目的目标将通过以下具体目标实现：目标1： 在Mulago National建立一个集中的、电子的、患者同意的血红蛋白病登记处 转诊镰状细胞病诊所。目标2：通过建立SCD改善乌干达SCD患者的结局 护理标准。目标3：通过开展队列研究推进SCD相关研究， 对入组SCD登记研究的患者进行的实施科学研究;以及关于 关于SCD青少年从儿科向成人护理过渡的额外研究。Makchs有很好的- 建立了协调和管理研究赠款的有效机制。在这五年结束时， 支持，我们期望有一个系统来支持高质量SCD研究的可持续性， 在乌干达和撒哈拉以南非洲可扩展的临床护理。

Project Abstract: Most (75%), individuals living with Sickle Cell Disease (SCD) are found in sub-Saharan Africa (SSA), where the condition accounts for about 16% (150,000 deaths) annually of under-5 mortality. In high income countries, evidence-based strategies to control mortality and morbidity due to SCD, reduced by 68% the mortality of children 0 – 3 years with SCD from 1983 and 2002. This success was achieved through four interventions: Detection of SCD as early as possible in life, through screening; aggressive prevention, detection and treatment of fatal complications, especially infections; The use of hydroxyurea as a disease- modifying agent; comprehensive care programs. Uganda is one of the SSA countries with a high overall sickle cell (HbS) gene prevalence of 13%. SCD accounts for 18% of child mortality in Uganda with estimates that 50-80% of children with the condition die before their fifth birthday. The Department of Pediatrics & Child Health, Makerere University College of Health Sciences established a sickle cell clinic in 1968. The clinic has a sickle cell database with over 10,000 unique patient records that increases by 1000 new registrations annually. The team has developed local guidelines for management of patients with SCD, trains students, in addition to conducting high-quality research projects and NIH funded studies. There are however remaining challenges that include: 1) Inadequate comprehensive care to all patients that has resulted in high burden of SCD-related morbidity and mortality. Research done in Uganda has documented high prevalence of stroke, neurocognitive impairments, acute chest syndrome, and micro-albuminuria among children with SCD. 2) due to a lack of a comprehensive newborn screening program, many children are diagnosed later in life or die before diagnosis, and 3) Low use of hydroxyurea despite the findings that it is safe and effective for use in this setting. The team at Makerere University is applying to join the Sickle Pan-African Research Consortium (SPARCO) as one of the Collaborative Consortium new sites, with a goal of improving the health outcomes of individuals with of SCD disease in Uganda, through implementation of evidence-based interventions. We shall leverage the resources and lessons learnt from NIH investments in Uganda including the H3Africa biorepository (UH2 HG007051; Joloba), MEPI project (R24TW008886, Sewankambo) and other ongoing grants including the HEPI project (1R25TW011213-01, Kiguli) to achieve this. The project goal will be achieved through the following specific aims: Aim 1: To develop a centralized, electronic, patient consented haemoglobinopathy registry at Mulago National Referral Sickle Cell Clinic. Aim 2: To improve SCD patient outcomes in Uganda by establishing SCD standards of care. Aim 3: To advance SCD related research by conducting cohort studies and implementation science studies on patients enrolled in the SCD registry; and an additional study on additional study on the transition from pediatric to adult care by SCD adolescents. MakCHS has well- established, efficient mechanisms for coordinating and managing research grants. By the end of this 5-year support, we anticipate having a system to support the sustainability of high quality SCD research and clinical care that is scalable in Uganda and SSA.