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）：虽然个别罕见的“孤儿”条件，溶酶体疾病共同影响1/6000的人，并负责重大残疾和疾病负担。这些疾病已经成为一些最具创新性和先进的实验性治疗的试验台。每种溶酶体疾病的罕见性意味着没有一个医学研究中心有机会看到整个光谱，或获得足够的数量来充分测试新的疗法。因此，对这些罕见疾病及其治疗的合作临床研究对于取得实质性进展至关重要。溶酶体疾病网络汇集了全国500多名研究人员和临床医生，患者倡导团体（PAG）和其他感兴趣的合作伙伴，并产生了协同研究和教育联盟，以推进这些疾病的治疗。在该提案中，11种溶酶体疾病类别的自然史的纵向研究和7项测量结果的初步研究以及I/II期临床试验集中在几个主题上。中枢神经系统（CNS）疾病是最难治疗和测量的疾病。一个重要的重点将是CNS结构和功能的定量方法，在粘多糖沉积症（MPS），巴滕病，尼曼-皮克C型，粘脂沉积症IV型，晚期婴儿神经元蜡样脂褐质沉积症，糖蛋白病，GM 2-神经节苷脂沉积症和沃尔曼病的网络提供一个标准的工具箱。庞贝氏症的研究主要集中在影响治疗反应的免疫调节因素。此外，我们还在MPS中纳入了一项关于骨病的研究和一系列关于法布里病的创新研究，合作者将开展肾脏结构和功能的自然史，肺功能作为儿童疾病进展的标志，并在高危人群中识别法布里病。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，希望促进对其他溶酶体疾病的研究，并为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博士后学员提供大量支持，以促进溶酶体疾病的职业发展，并举办一次全国会议（世界研讨会），以分享研究成果，教育和网络协同作用。一个网站www.LysosomalDiseaseNetwork.org已经为网络、病人、医生和公众提供了教育、研究和临床资源。公共卫生相关性：溶酶体疾病网络的联合和综合努力将集中有限的资源，建立一个拥有一种或多种这些疾病专业知识的中心网络，以解决诊断，疾病管理和治疗方面的重大挑战。这些问题的解决将对溶酶体疾病患者产生直接影响，并对医疗实践具有重要意义。