Lysosomal Disease Network

溶酶体疾病网络

• 批准号: 8150442
• 负责人: Chester B. Whitley
• 金额: $ 124.42万
• 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/8150442
• 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）：尽管溶酶体疾病是一种罕见的“孤儿”病症，但总体而言，每 6,000 人中就有 1 人受到溶酶体疾病的影响，并造成严重的残疾和疾病负担。这些疾病已成为一些最具创新性和最先进的实验治疗的试验台。每种溶酶体疾病都很罕见，这意味着没有任何一个医学研究中心有机会了解整个谱系，或获得足够的数据来充分测试新疗法。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绝对至关重要。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，并组建了一个协同研究和教育联盟，以推进这些疾病的治疗。在该提案中，对 11 种溶酶体疾病类别的自然史的纵向研究和 7 项结果测量的试点研究以及 l/ll 期临床试验集中于几个主题。中枢神经系统（CNS）疾病是最难治疗和测量的疾病。重点关注中枢神经系统结构和功能的定量方法，为粘多糖病（MPS）、巴顿病、尼曼-匹克 C 型、粘脂沉积症 IV 型、晚期婴儿神经元蜡质脂褐质沉积症、糖蛋白沉积症、GM2- 网络提供标准工具箱。神经节苷脂沉积症和沃尔曼病。庞贝病的研究主要集中于影响治疗反应的免疫调节因素。此外，我们在 MPS 中纳入了一项关于骨病的研究，以及一系列关于法布里病的创新研究，其中合作者将开展肾脏结构和功能的自然史、作为儿童疾病进展标志的肺功能，以及识别法布里病高危人群。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，并为更深入的病理生理学和治疗研究提供动力。此外，该网络每年将为至少两名博士后学员的溶酶体疾病职业发展提供实质性支持，并举办全国会议（世界研讨会）以分享研究成果、教育和网络协同作用。网站 www.LysosomalDiseaseNetwork.org 已经为网络、患者、医生和公众提供教育、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，创建一个具有一种或多种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，并对医疗实践产生重要影响。