Data Coordinating and Image Analysis for CRISP-II

描述（由申请人提供）：常染色体显性多囊肾病（ADPKD）是致残发病率的主要原因，是世界上终末期肾衰竭的第四大原因，影响超过50万美国公民和全世界数百万人。2000年，阿拉巴马大学、埃默里大学、堪萨斯大学、梅奥诊所和华盛顿大学圣路易斯分校的研究人员联合成立了多囊肾病放射学研究联盟（CRISP-I）。本研究的主要目的是：(1)开发和测试成像技术监测肾囊肿大小和实质受累变化的准确性和可重复性。(2)建立并维护统一、准确收集信息的数据库。(3)维护和提供这些数据，以促进在不久的将来规划和实施临床适当的干预措施。CRISP-I的目标是扩展CRISPI的观察结果，以便：1)在肾/囊肿扩大率与定性和定量终点之间建立明确的联系。2)提供一种足够敏感和准确的疾病进展标志物（肾体积），以便在旨在预防疾病进展的临床试验中用作主要结局标志物。3)开发和测试疾病进展的其他生物标志物。目的1：扩展CRISP-I的初步观察，以确定定量（肾体积、肝和肾囊肿体积）或定性（囊肿分布和特征）结构参数预测肾功能不全的程度。目的2：扩展CRISP-I的初步观察，以确定MR技术在多大程度上通过年龄和性别调整肾血流测量来预测肾脏生长速度；肾血流量和肾容量可预测ADPKD患者肾功能下降的速度。目的3：详尽地分析来自CRISP- i和CRISP- ii扩展的活数据库和存储的生物样本，以开发和测试量化和监测疾病进展的新指标，并收集已知患有ADPKD的CRISP家族成员的DMA样本和临床信息，用于未来的研究，以检查基因型-表型相关性并确定遗传修饰因子。

DESCRIPTION (provided by applicant): Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of disabling morbidity and is the fourth leading cause of end-stage renal failure in the world, affecting more than 500,000 U.S. citizens and millions more worldwide. Researchers at the University of Alabama, Emory University, University of Kansas, Mayo Clinic and Washington University St. Louis joined together in 2000 to create the Consortium for Radiologic Studies of Polycystic Kidney Disease (CRISP-I). The primary objectives of this investigation were to: (1) Develop and test the accuracy and reproducibility of imaging techniques to monitor changes in renal cyst size and parenchymal involvement. (2) Establish and maintain a database of uniformly and accurately collected information. (3) Maintain and make available such data to facilitate the planning and implementation of clinically appropriate interventions in the near future. The goals of CRISP-I I are to extend the observations of CRISPI in order to: 1) Draw unequivocal linkage between the rate of kidney/cyst enlargement and qualitative and quantitative end-points. 2) Provide a marker of disease progression (kidney volume) sensitive and accurate enough to be used as a primary outcome marker in clinical trials aiming to forestall disease progression. 3) Develop and test other bio-markers of disease progression. The specific aims are: Aim 1: Extend the preliminary observations of CRISP-I to ascertain the extent to which quantitative (kidney volume and hepatic and kidney cyst volume) or qualitative (cyst distribution and character) structural parameters predict renal insufficiency. Aim 2: Extend the preliminary observations of CRISP-I to ascertain the extent to which age and sex-adjusted measurements of renal blood flow by MR technology predict the rate of renal growth; and, renal blood flow and kidney volume predict the rate of renal function decline in ADPKD. Aim 3: Exhaustively analyze the living database and stored biologic samples derived from CRISP-I and the CRISP-II extension to develop and test new metrics to quantify and monitor disease progression, and collect DMA samples and clinical information from CRISP family members known to have ADPKD for use in future studies to examine genotype-phenotype correlations and to identify genetic modifiers.