Lysosomal Disease Network

溶酶体疾病网络

• 批准号: 7937808
• 负责人: Chester B. Whitley
• 金额: $ 139.23万
• 依托单位: UNIVERSITY OF MINNESOTA
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2014-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7937808
• 关键词: Lysosomal; Disease; Network

DESCRIPTION (provided by applicant): Although individually rare "orphan" conditions, the lysosomal diseases collectively affect 1 in 6,000 individuals and are responsible for a significant disability and disease burden. These diseases have become a test bed for some of the most innovative and advanced experimental treatments. The rarity of each lysosomal disease means that no single medical research center has an opportunity to see the entire spectrum, or to acquire sufficient numbers to adequately test new therapies. Thus, collaborative clinical research on these rare disorders and their treatment is absolutely crucial to make substantial progress. The Lysosomal Disease Network brings together more than 500 researchers and clinicians across the country, Patient Advocacy Groups (PAG), and other interested partners, and has generated a synergistic research and educational consortium to advance treatment of these diseases. In this proposal, longitudinal studies of the natural history of 11 lysosomal disease categories and 7 pilot studies of measurement of outcome and phase l/ll clinical trials are focused on several themes. Central nervous system (CNS) disease has been the most difficult to treat as well as to measure. A significant focus will be on quantitative methods of CNS structure and function providing a standard toolbox across the network in the Mucopolysaccharidoses (MPS), Batten disease, Niemann-Pick type C, Mucolipidosis type IV, Late Infantile Neuronal Ceroid Lipofuscinosis, Glycoproteinoses, GM2-gangliosidoses, and Wolman disease. A study on Pompe disease focuses primarily on the immune modulatory factors affecting treatment response. Additionally, we include a study on bone disease in the MPS and a set of innovative studies on Fabry disease in which collaborators will carry out the natural history of kidney structure and function, pulmonary function as a marker of disease progression in children, and identification of Fabry disease among high-risk populations. We will provide support for all of these projects, leveraging additional resources from PAG and industry, in the hope of fostering research on other lysosomal diseases and providing the impetus for more in-depth studies of pathophysiology and treatment. In addition, this network will provide substantial support for at least two postdoctoral trainees each year for career development in lysosomal diseases as well as a national meeting (WORLD Symposium) for sharing of research findings, education, and network synergy. A web-site www.LysosomalDiseaseNetwork.org already provides an educational, research, and clinical resource for the Network, patients, physicians, and the public. PUBLIC HEALTH RELEVANCE: The combined and integrated efforts of the Lysosomal Disease Network will focus limited resources toward creating a network of centers with expertise in one or more of these diseases in order to solve major challenges in diagnosis, disease management, and therapy. Solutions to these problems will have direct impact on patients suffering from lysosomal diseases, and important implications for medical practice.

描述（由申请人提供）：尽管单独罕见的“孤儿”疾病，但溶酶体疾病共同影响了6,000名个人中的1个，并负有严重的残疾和疾病负担。这些疾病已成为一些最具创新性，最先进的实验治疗方法的测试床。每种溶酶体疾病的罕见性意味着，没有一个医学研究中心可以看到整个谱系，或者获得足够的数量来充分测试新疗法。因此，关于这些罕见疾病及其治疗的协作临床研究对于取得重大进展至关重要。溶酶体疾病网络汇集了全国500多名研究人员和临床医生，患者宣传小组（PAG）以及其他感兴趣的伴侣，并产生了一个协同的研究和教育财团，以提高对这些疾病的治疗。在这项提案中，对11种溶酶体疾病类别的自然历史的纵向研究和7项测量结果和LL/LL临床试验的试点研究集中在几个主题上。中枢神经系统（CNS）疾病是最难治疗和测量的。 A significant focus will be on quantitative methods of CNS structure and function providing a standard toolbox across the network in the Mucopolysaccharidoses (MPS), Batten disease, Niemann-Pick type C, Mucolipidosis type IV, Late Infantile Neuronal Ceroid Lipofuscinosis, Glycoproteinoses, GM2-gangliosidoses, and Wolman disease.一项关于庞贝疾病的研究主要集中在影响治疗反应的免疫调节因素上。此外，我们还包括一项关于MPS骨骼疾病的研究和一系列有关Fabry病的创新研究，其中合作者将执行肾脏结构和功能的自然历史，肺部功能作为儿童疾病进展的标志，以及在高风险种群中鉴定Fabry疾病。我们将为所有这些项目提供支持，利用PAG和行业的额外资源，以期促进对其他溶酶体疾病的研究，并为对病理生理学和治疗的更深入研究提供动力。此外，该网络每年将为至少两名溶酶体疾病的职业发展以及全国会议（世界研讨会）提供大量支持，以共享研究结果，教育和网络协同作用。网站www.lysosomaldiseaseasenetwork.org已经为网络，患者，医生和公众提供了教育，研究和临床资源。公共卫生相关性：溶酶体疾病网络的合并和综合努力将集中在有限的资源上，建立一个在其中一种或多种疾病中具有专业知识的中心网络，以解决诊断，疾病管理和治疗方面的主要挑战。解决这些问题的解决方案将直接影响患有溶酶体疾病的患者，并对医学实践产生重要影响。