Comprehensive Sickle Cell Center

描述（由申请人提供）： 费城儿童医院的综合镰状细胞中心（CSCC）已经运营了14年。 我们的主要目标是寻求有关该疾病的新信息，同时将获得的知识转化为患者的全部利益。 在这方面，我们的CSCC从一开始就以患者的护理为中心，围绕其组织研究。 在这种遗传性疾病的研究历史上，第一次有一种药物，羟基脲，专门用于预防管理。 今天，越来越多的成年SCD患者由于使用了羟基脲而减少了疼痛和住院治疗。 骨髓移植已成功地为80%接受同胞匹配供体移植的患者提供了血液学治疗，但这种疗法可用于不到15%的值得试用的患者，目前处于早期发展阶段的非清髓性移植方案有望降低移植后发病率，并提高临床医生和患者/家庭对干细胞移植的接受程度。 输血治疗仍然是SCD最重要的治疗手段之一。 管理良好的长期输血治疗能够使越来越多的患者免于发生或复发重大并发症，如中风，急性胸部综合征和衰弱性疼痛。 总之，已经取得了进展，但是，直到我们能够向患有SCD的新生儿的父母保证，我们可以提供预防该疾病所有主要和常见并发症的治疗，我们的工作还远远没有完成。 该中心很高兴有机会参与中心间合作临床研究，这是综合中心的一个新功能，我们提出了预防性输血研究。 我们提出了一个令人兴奋和创新的基础科学研究，一个非常有前途的转化项目，以及临床和心理社会研究的平衡计划，可能很快导致改善镰状细胞病儿童和青少年的福祉。 我们计划继续致力于将研究的益处扩大到镰状细胞病世界的欠发达地区。

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.