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

• 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
• 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

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(申请人提供)：遗传性肾结石，可导致大量不溶性矿物质的排泄，导致儿童时期结石复发，并有罹患慢性肾脏疾病的风险。因此，罕见的肾结石协会(RKSC)于5年前成立，以促进对原发性高草酸尿、胱氨酸尿症、Dent病和腺嘌呤磷酸核糖转移酶缺乏症的治疗。已经建立了安全的、基于网络的登记处和组织库，并对合作项目开放。RKSC提供现成的疾病信息、诊断性测试、用于试点研究的假设，以及用于临床试验的特征明确的患者组。与每种疾病的患者倡导团体(PAG)建立伙伴关系，可以在患者、家属和当地医生之间快速传播信息。与我们的PAG一起，我们最近在纽约、伦敦和明尼苏达州罗切斯特成功地举办了患者和家庭教育日。我们扩大了年轻研究人员的培训和研究机会，并成功地将他们引导到罕见疾病的研究中。此次RKSC续签的主要目标是扩大我们的成功基础。具体目标是：(1)整合和吸引患者和PAG作为RKSC的研究伙伴，以改善疾病结局。(2)识别有进行性肾功能丧失风险的患者。(3)明确肾脏损伤的途径。(4)为潜在的先导研究确定新的治疗靶点。RKSC将在4个相互关联的项目中追求这些目标，每个项目都围绕一个疾病过程。一个关键组成部分将是安全的基于网络的患者数据库，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登记处，在本供资周期中对预期的队列建立积极的后续行动。纵向数据收集将进一步定义每种疾病的自然病史、生活质量和炎性生物特征。RKSC的成功得到了我们附属PAG和机构在本周期内对我们项目的大量共同资助(198,500美元/年)的认可。