Prevention of the Complications of Hemophilia Thru Hemophilila Treatment Centers

描述（由申请人提供）：本申请的总体目标是通过扩展和获取临床数据集来预防血友病和出血性疾病的并发症。这些数据集将包括特定疾病和一般健康相关信息。获得的数据将用于在美国各地的多学科综合血友病治疗中心 (HTC) 网络中主动实施预防计划。 HTC 旨在治疗 A 型和 B 型血友病、血管性血友病和罕见因子缺乏症患者。利用综合护理模式、基于先前收集的数据的治疗干预以及基于新研究的治疗变化，继续加强对出血性疾病社区的护理。慢性遗传性疾病通常需要复杂的多学科护理才能实现最佳诊断、治疗和管理。如果治疗不当，出血性疾病的后果包括严重的医疗、经济、职业、心理和家庭影响。缺乏适当的治疗会对一般公共卫生造成影响，例如因医院和紧急情况利用率增加而导致护理成本增加，以及可能需要福利和其他政府权利的患者残疾。采用区域性方法进行规划、协调和分配资金对于确保第二区、纽约州、新泽西州、波多黎各和美属维尔京群岛提供治疗这种疾病和其他复杂出血性疾病的服务至关重要。拟议的计划将继续通过 12 个区域核心中心组织并由 CDC 资助的联邦资助 HTC 全国网络。目标 1：为出血性疾病患者提供全面的预防服务，旨在通过旨在使用多学科方法减少并发症的研究和监测来实现和衡量特定结果。根据这一目标，我们建议通过持续招募和观察患有遗传性出血性疾病（包括血友病 A 和 B、冯·维勒布兰德病、罕见出血性疾病和患有出血性疾病的女性）的个体来扩大队列；并扩展当前的通用数据和血清样本收集系统（UDC）数据库，以收集与女性凝血、罕见出血性疾病、预防、因子利用、抑制剂、基因突变和其他重要临床结果等问题相关的其他相关数据。我们计划设计和试点更多研究，旨在通过扩大a）基于基因的诊断和b）更精确的生化表型定义（例如整体测定）来进一步表征出血性疾病人群，最终目标是基因型-表型相关性；利用 UDC BMI 数据评估基于体重的给药条件对医疗保健系统的成本影响；测试有助于减肥的干预措施；设计并试行一项研究，以评估年度自付费用和自付费用的增加对使用 HTC 提供的选择性/预防性服务的影响。目标 2：通过血友病治疗中心维持一个区域综合预防服务网络，为血友病及相关疾病患者（包括妇女、少数民族和服务不足的人群）提供服务。在这一总体目标下，我们将制定全面的、文化敏感的、以家庭为中心的护理服务及其扩展、区域内的沟通和行政机制。其中包括外展和教育、指导和培训计划、维护适当的管理和评估系统、维护预防评估网络，以通过提高数据收集能力、从纸质转向电子以及我们参与协调委员会来评估预防服务的有效性。我们的计划将通过预防和控制疾病、伤害和残疾来促进健康和生活质量。我们的许多目标将有助于减少健康差距并加速健康行为的采用，同时通过基于成本的研究提高预防效果。一些目标将直接转移到公众中的其他慢性病人群，例如肥胖和月经过多的评估。

DESCRIPTION (provided by applicant): The overall objective of this application is to prevent the complications of hemophilia and bleeding disorders through the expansion and acquisition of clinical data sets. These data sets will include both disease-specific and general-health related information. The data acquired will be used for proactive implementation of prevention programs throughout the network of multidisciplinary comprehensive Hemophilia Treatment Centers (HTC) throughout the United States. HTC's are designed to treat patients with hemophilia A and B, von Willebrand Disease and rare factor deficiencies. Utilizing the comprehensive care model, therapeutic interventions based on previously collected data and changes in therapy based on new research continues to enhance the care of the bleeding disorders community. Chronic genetic disorders often require complex and multidisciplinary care for optimal diagnosis, treatment and management. The consequences of bleeding disorders include severe medical, financial, vocational, psychological and familial repercussions when the condition is not properly managed. The lack of proper treatment has general public health consequences such as increased costs of care caused by increased hospital and emergency utilization and patient disability that may require welfare and other government entitlements. A regional approach to planning, coordination and allocation of funds is vital to ensure that services are available to treat this and other complicated bleeding disorders in Region II, New York, New Jersey, Puerto Rico and the US Virgin Islands. The proposed program will continue a national network of federally funded HTCs organized through 12 regional core centers and funded by the CDC. Aim 1: To provide comprehensive prevention services to persons with bleeding disorders directed at attaining and measuring specific outcomes through research and surveillance aimed at reducing complications using a multidisciplinary approach. Under this aim we propose to expand the cohort through continued recruitment and observation individuals with genetic bleeding disorders including hemophilia A and B, von Willebrand disease, rare bleeding disorders and women with bleeding disorders; and expand the current Universal Data and Serum Specimen Collection System (UDC) database to collect additional relevant data related to women's issues in coagulation, rare bleeding disorders, prophylaxis, factor utilization, inhibitors, genetic mutations, and other important clinical outcomes. We plan to design and pilot additional studies aimed at further characterizing the bleeding disorders population through the expanded access to a) gene-based diagnosis and b) more precise definition of the biochemical phenotype (e.g. global assays) with the ultimate goal of genotype - phenotype correlation; utilize the UDC BMI data to evaluate the cost impact on the health care system from conditions with weight-based dosing; test interventions that could facilitate weight loss; and design and pilot a study to evaluate effects of rising annual out- of-pocket expenses and co-payments on the use of elective/preventive services provided by the HTC. Aim 2: Maintain A Regional Network Of Comprehensive Prevention Services Through Hemophilia Treatment Centers to Persons With Hemophilia and Related Disorders Including Women, Minorities and the Underserved. Under this broad aim we will lay out our comprehensive, culturally sensitive, family-centered care services and their expansion, our communication within the region and administrative mechanisms. These include outreach and education, orientation and training programs, maintenance of appropriate management and evaluation systems, maintenance of a prevention evaluation network to assess the efficacy of prevention services by increasing the capacity for data collection, moving from paper to electronic and our participation in the coordinating committee. Our plan as stated will promote health and quality of life by preventing and controlling disease, injury, and disability. Many of our aims will facilitate reducing health disparities and accelerate the adoption of health behaviors while improving prevention effectiveness through cost-based studies. Some aims will be directly transferable to other chronic disease populations in the general public such as the evaluation of obesity and menorrhagia.