Nephrolithiasis and Kidney Failure: the Rare Kidney Stone Consortium

肾结石和肾功能衰竭：罕见肾结石协会

基本信息

批准号：
8765226
负责人：
Dawn Schmautz Milliner
金额：
$ 125万
依托单位：
MAYO CLINIC ROCHESTER
依托单位国家：
美国
项目类别：
财政年份：
2009
资助国家：
美国
起止时间：
2009-09-08 至 2019-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8765226
关键词：
Advocate Affect Blood specimen Calculi Caring Childhood Chronic Kidney Failure Clinic Clinical Clinical Research Clinical Trials Clinical Trials Cooperative Group Cystinuria Data Collection Databases Diagnostic tests Disease Disease Outcome Education End stage renal failure Excision Excretory function Family Foundations Funding Goals Grant Health Care Costs Hyperoxaluria Individual Inflammatory Inherited Injury Injury to Kidney Institution International Kidney Kidney Calculi Kidney Failure Knowledge Lead London Meta-Analysis Minerals Natural History Nephrocalcinosis Nephrolithiasis New York Online Systems Outcome Pain Pathway interactions Patient Care Patients Physicians Pilot Projects Prevalence Primary Hyperoxaluria Procedures Process Quality of life Rare Diseases Registries Renal function Research Research Infrastructure Research Personnel Research Training Resource Sharing Resources Risk Science Scientist Secure Severity of illness Tissue Banking Tissue Banks Training Programs Urine Woman Work adenine phosphoribosyltransferase advanced disease base biobank biosignature cohort effective therapy experience follow-up improved men new therapeutic target oxalosis patient advocacy group prevent programs prospective public health relevance success treatment strategy

项目摘要

DESCRIPTION (provided by applicant): Hereditary forms of nephrolithiasis that cause marked excretion of insoluble minerals lead to recurring stones from childhood and risk for chronic kidney disease. Therefore, the Rare Kidney Stone Consortium (RKSC) was formed 5 years ago to advance the care of primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency. Secure, web-based registries and tissue banks have been established and are open for collaborative projects. The RKSC provides readily available disease information, diagnostic testing, hypotheses for pilot studies, and well-characterized patient groups for clinical trials. Partnerships with patient advocacy groups (PAGs) for each of the diseases allows rapid spread of information among patients, families, and local physicians. Together with our PAGs we recently hosted successful patient and family education days in New York, London, and Rochester, MN. We have expanded training and research opportunities for young investigators, and successfully directed them to rare diseases research. The primary goal of this RKSC renewal is to expand our successful base. Specific aims are: (1) Integrate and engage patients and PAGs as research partners of the RKSC to improve disease outcomes. (2) Identify patients at risk of progressive loss of kidney function. (3) Identify pathways of kidney injury. (4) Identify novel therapeutic targets for potential pilot studies. The RKSC will pursue these goals in 4 interlinked projects, each centered around a disease process. A key component will be secure web-based patient databases used to support tissue bank programs and appropriate clinical studies. We will leverage our successful registries to establish active follow-up of prospective cohorts in this funding cycle. Longitudinal data collection will further define the natural history, quality of life, and inflammatory biosignature f each disease. The RKSC success has been recognized with significant co-funding of our programs by our affiliated PAGs and institutions this cycle ($198,500 +/year).

描述（由申请人提供）：遗传性肾结石会导致不溶性矿物质显着排泄，从而导致儿童时期结石复发，并增加患慢性肾病的风险。因此，罕见肾结石联盟 (RKSC) 于 5 年前成立，旨在推进原发性高草酸尿症、胱氨酸尿症、Dent 病和腺嘌呤磷酸核糖转移酶缺乏症的治疗。安全的、基于网络的登记处和组织库已经建立，并对合作项目开放。 RKSC 提供现成的疾病信息、诊断测试、试点研究假设以及用于临床试验的明确特征的患者群体。与每种疾病的患者倡导团体 (PAG) 合作，可以在患者、家属和当地医生之间快速传播信息。最近，我们与 PAG 一起在纽约、伦敦和明尼苏达州罗切斯特成功举办了患者和家庭教育日活动。我们扩大了年轻研究者的培训和研究机会，并成功引导他们从事罕见疾病研究。此次 RKSC 更新的主要目标是扩大我们的成功基础。具体目标是： (1) 整合并吸引患者和 PAG 作为 RKSC 的研究合作伙伴，以改善疾病结果。 (2) 识别有肾功能进行性丧失风险的患者。 (3)明确肾损伤的途径。 (4) 确定潜在试点研究的新治疗靶点。 RKSC 将通过 4 个相互关联的项目来实现这些目标，每个项目都围绕一个疾病过程。一个关键组成部分是基于网络的安全患者数据库，用于支持组织库计划和适当的临床研究。我们将利用我们成功的注册中心，在本融资周期中对潜在队列进行积极的跟进。纵向数据收集将进一步定义每种疾病的自然史、生活质量和炎症生物特征。 RKSC 的成功得到了我们附属 PAG 和机构本周期对我们项目的大量共同资助（每年 198,500 美元以上）的认可。