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%)患有镰状细胞病(SCD)的人发现于撒哈拉以南非洲(SSA)，那里 这种疾病每年约占5岁以下儿童死亡率的16%(15万人死亡)。在高收入中 在各国，控制SCD死亡率和发病率的循证战略减少了68% 1983年和2002年0-3岁儿童SCD死亡率。这一成功是通过四个 干预措施：通过筛查，在生活中尽早发现SCD；积极预防， 检测和治疗致命并发症，特别是感染；使用羟基尿素作为一种疾病- 改良剂；全面护理计划。乌干达是SSA国家中总体支持率较高的国家之一 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%的患有这种疾病的儿童在5岁生日之前死亡。美国商务部 儿科和儿童健康，Makerere大学健康科学学院在#年建立了一家镰状细胞诊所 1968年。该诊所有一个镰刀状细胞数据库，其中包含10,000多条独特的患者记录，该数据库增加了1000条 每年都有新的注册。该团队已经为SCD患者的管理制定了当地指南， 除了进行高质量的研究项目和NIH资助的研究外，还培训学生。确实有 然而，剩余的挑战包括：1)对所有有以下疾病的患者的综合护理不足 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 在患有SCD的儿童中。2)由于缺乏全面的新生儿筛查计划，许多儿童 被诊断为晚年或在确诊前死亡，以及3)羟基尿素使用量低，尽管发现它 在这种环境下使用是安全有效的。Makerere大学的团队正在申请加入镰刀 泛非研究联盟(SPARCO)作为合作联盟新网站之一，拥有 改善乌干达SCD疾病患者健康状况的目标，通过 实施循证干预。我们将利用资源和从中吸取的经验教训 美国国立卫生研究院在乌干达的投资包括H3非洲生物库(UH2 HG007051；Joloba)、MEPI项目 (R24TW008886，Sewankambo)和其他正在进行的赠款，包括HEPI项目(1R25TW011213-01， Kiguli)来实现这一点。项目目标将通过以下具体目标实现：目标1： 在穆拉戈国家医院建立一个集中的、电子的、患者同意的血红蛋白病登记系统 转诊镰刀细胞诊所。目标2：通过建立SCD改善乌干达SCD患者的预后 护理标准。目标3：通过进行队列研究和研究来推进与SCD相关的研究 对在SCD登记处登记的患者进行的实施科学研究；以及关于 关于SCD青少年从儿童护理过渡到成人护理的补充研究。MakCHS有很好的- 建立协调和管理研究资助的有效机制。到本5年期末 支持，我们预计会有一个系统来支持高质量SCD研究的可持续性和 在乌干达和SSA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.