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）：遗传形式的肾结石病，导致不溶性矿物质的排泄导致童年时期的重复结石和慢性肾脏疾病的风险。因此，稀有的肾结石联盟（RKSC）是5年前形成的，以促进对原发性高黄油，囊这尿症，凹痕和腺嘌呤磷酸蛋白酶基转移酶缺乏症的护理。已经建立了安全的，基于网络的注册表和组织库，并开放了合作项目。 RKSC提供了容易获得的疾病信息，诊断测试，试点研究的假设以及用于临床试验的特征良好的患者组。与患者倡导组（PAG）的每种疾病的伙伴关系允许在患者，家庭和当地医生之间快速传播信息。我们最近在纽约，伦敦和明尼苏达州罗切斯特举办了成功的患者和家庭教育日。我们为年轻的研究人员扩大了培训和研究机会，并成功地将他们引向了罕见的疾病研究。此RKSC更新的主要目标是扩大我们的成功基础。具体目的是：（1）将患者和PAG作为RKSC的研究伙伴整合并吸引患者和PAG，以改善疾病预后。（2）确定有肾功能丧失的风险的患者。（3）确定肾脏损伤的途径。（4）确定潜在试点研究的新型治疗靶标。 RKSC将在4个相互联系的项目中追求这些目标，每个项目都以疾病过程为中心。一个关键组件将是用于支持组织库计划和适当临床研究的基于Web的患者数据库。我们将利用我们成功的注册机构在此资助周期中积极对潜在队列的随访。纵向数据收集将进一步定义每种疾病的自然历史，生活质量和炎症生物签名。 RKSC的成功获得了我们的计划的大量共同资助，而我们的附属PAG和机构这个周期（$ 198,500 +/年）。