Prevention of the Complications of Hemophilia Thru Hemophilila Treatment Centers

描述(申请人提供)：本申请的总体目标是通过扩大和获取临床数据集来预防血友病和出血性疾病的并发症。这些数据集将包括疾病特定信息和一般健康相关信息。获得的数据将用于在全美多学科综合血友病治疗中心(HTC)网络中积极实施预防计划。HTC的设计用于治疗血友病A和B、血管性血友病和罕见的因子缺乏症患者。利用综合护理模式，基于以前收集的数据和基于新研究的治疗变化的治疗干预措施继续加强对出血性疾病社区的护理。慢性遗传性疾病往往需要复杂和多学科的护理，以实现最佳的诊断、治疗和管理。出血性疾病的后果包括严重的医疗、财务、职业、心理和家庭影响，如果病情没有得到适当的处理。缺乏适当的治疗会造成一般的公共卫生后果，例如由于医院和急诊使用率增加而导致的护理费用增加，以及可能需要福利和其他政府福利的病人残疾。对资金的规划、协调和分配采取区域办法至关重要，以确保在第二区域、纽约、新泽西州、波多黎各和美属维尔京群岛提供治疗这种和其他复杂出血疾病的服务。拟议的计划将继续通过12个地区核心中心组织的联邦资助的HTC的全国网络，并由CDC提供资金。目标1：向出血性疾病患者提供全面的预防服务，旨在通过研究和监测实现和衡量具体结果，目的是利用多学科方法减少并发症。在这一目标下，我们建议通过继续招募和观察患有遗传性出血疾病的患者(包括血友病A和B、von Willebrand病、罕见出血疾病和患有出血疾病的妇女)来扩大队列；并扩大当前的通用数据和血清样本收集系统(UDC)数据库，以收集与妇女在凝血、罕见出血疾病、预防、因子利用、抑制剂、基因突变和其他重要临床结果方面的问题有关的更多相关数据。我们计划设计和试行更多研究，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(例如全球检测)来进一步确定出血疾病人群的特征，最终目标是实现基因-表型相关性；利用UDC BMI数据来评估基于体重的剂量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；以及设计和试行一项研究，以评估每年自付费用和共同支付对HTC提供的可选/预防服务的使用的影响。目标2：通过血友病治疗中心为血友病患者和相关疾病患者，包括妇女、少数民族和未得到充分服务的人维持区域综合预防服务网络。在这个宏大的目标下，我们将规划我们全面的、对文化敏感的、以家庭为中心的护理服务及其扩展、我们在区域内的沟通和行政机制。这些措施包括外联和教育、定向和培训方案、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来评估预防服务的效力、从纸质转向电子以及我们参与协调委员会。如上所述，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缩小健康差距，加快健康行为的采用，同时通过基于成本的研究提高预防效果。一些目标将直接适用于普通公众中的其他慢性病人群，例如评估肥胖和月经过多。

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.