Comprehensive Sickle Cell Center

描述(由申请人提供)： 费城儿童医院的综合镰刀细胞中心(CSCC)已经运营了第14个年头。我们的主要目标是寻求有关这种疾病的新信息，同时将所获得的知识转化为患者的全部利益。在这方面，我们的CSCC从一开始就是以照顾患者为中心来组织研究的。在这种遗传病的研究历史上，一种名为羟基脲的药物首次获得了专门用于预防治疗的许可。如今，由于使用羟基脲，越来越多的成年SCD患者的生活痛苦较少，住院时间也较短。骨髓移植已经成功地为接受兄弟姐妹相合的捐赠者移植的80%的人提供了血液学治疗，但只有不到15%的人可以使用这种疗法。目前处于早期开发阶段的非清髓性移植方案有望减少移植后的发病率，并提高干细胞移植对临床医生和患者/家庭的接受度。输液治疗仍然是SCD治疗中最重要的治疗方法之一。管理良好的慢性输血疗法能够防止越来越多的患者发生或复发重大并发症，如中风、急性胸部综合征和衰弱疼痛。总而言之，我们已经取得了进展，但在我们能够向患有SCD的新生儿的父母保证我们能够提供能够预防该疾病所有主要和常见并发症的治疗之前，我们的工作远未完成。 该中心对有机会参与中心间协作临床研究感到兴奋，这是综合中心的一个新功能，我们建议对其进行预防性输血研究。我们提出了一个平衡的计划，其中包括令人兴奋和创新的基础科学研究，一个非常有前途的转换项目，以及可能很快导致改善患有镰状细胞疾病的儿童和青少年的福祉的临床和心理社会研究。我们计划继续致力于将研究的好处扩展到镰状细胞世界中欠发达的地区。

DESCRIPTION (provided by applicant): The Comprehensive Sickle Cell Center (CSCC) at the Children's Hospital of Philadelphia is in its 14th year of operations. Our major goal has been to seek new information about the disease while translating acquired knowledge to the full benefit of the patient. In this regard, our CSCC has been organized from its inception with the care of the patients as its central focus around which research is organized. For the first time in the history of research in this genetic disease, a drug, hydroxyurea, has been licensed specifically for preventive management. Today, an increasing number of adult SCD patients lead lives of less pain and hospitalization because of their use of hydroxyurea. Bone marrow transplantation has succeeded in providing hematologic cure for 80% of those receiving sibling-matched donor transplant but this therapy is available for less than 15% of those who deserve a trial of it. Non-myeloablative transplant protocols now in early development promise to decrease post-transplant morbidity and increase the acceptability of stem cell transplantation to clinicians and patients/families. Transfusion therapy remains one of the most important therapeutic maneuvers in the management of SCD. Well-managed chronic transfusion therapy is able to keep an increasing number of patients from the occurrence or recurrence of major complications such as stroke, acute chest syndrome, and debilitating pain. In summary, progress has been made however, until we can assure the parents of a newborn with SCD that we can provide therapy that will prevent all the major and common complications of the disease, our work is far from being completed. This Center is excited about the opportunity to participate in the inter-Center collaborative clinical research studies, a new feature of the Comprehensive Centers for which we propose a prophylactic transfusion study. We have proposed a balanced program of exciting and innovative basic science research, a very promising translational project, and clinical and psychosocial studies that may lead soon to improved well-being of children and adolescents with sickle cell disease. We plan to continue our commitment to extend benefits of research to less developed areas of the sickle cell world.