UAB Childhood Cystic Kidney Disease Core Center (UAB-CCKDCC) - Clinical, Translational, and Biorepository Resource

摘要 UAB-儿童囊性肾脏疾病核心中心(CCKDCC)的目标是与其他U54合作 PKD中心，在U24协调中心站点(U24-CCS)的指导下，减少囊性障碍 肾脏疾病研究导致PKD联盟成员和 开发新的治疗方法。UAB-CCKDCC将帮助解决与小型 通过提供对临床数据和生物材料的访问，根据个人直觉提供CCKD患者群体 来自美洲各地的人类CCKD患者。该中心将专注于资源的开发 分析睫状囊性疾病蛋白的功能、定位和相互作用。UAB-CCKDCC已经组装完毕 一个多学科的研究团队，以实现这些目标，并积极招募新的和现有的 调查人员赶到现场。该中心将生成并为研究人员提供与患者相关的CCKD模型 并建立方法论来利用这些模型来确定延缓疾病的候选疗法的有效性 使用标准化、经济实惠的纵向成像策略进行升级。由提供的资源 CCKDCC将帮助解决几个最重要的障碍，减缓治疗技术的发展 方法，并战略性地招募新科学家进入该领域。 临床、翻译和生物库资源(核心A)将汇编临床数据、遗传信息、 和来自隐性HRFD患者的生物标本，以及启动ADPedKD的US节点，以及 儿童ADPKD的国际多中心观察性研究。此集中式资源旨在 加快儿童囊性肾脏疾病的发现研究(与核心B和C合作)。整合 在唯一标识符下对这些资源进行评估，并结合对患者/护理人员进行严格、详细的访谈 卫生研究经验将为制定新的、有针对性的干预策略(伙伴关系)提供信息 具有核心D)。核心将在U24-CCS的指导下，与其他U54-RTCC协调努力 NIDDK，开发资源并将其提供给PKD研究联盟。

ABSTRACT It is the goal of the UAB-Childhood Cystic Kidney Disease Core Center (CCKDCC) to work with the other U54 PKD Centers, under the direction of the U24 Coordinating Center Site (U24-CCS) to reduce obstacles in cystic kidney disease research leading to more rapid translational studies by PKD Consortium Members and development of novel therapeutics. The UAB-CCKDCC will help address the limitations associated with the small CCKD patient population available at individual intuitions by providing access to clinical data and biomaterial from human CCKD patients from across the Americas. The Center will focus on the development of resources to analyze cilio-cystic disease protein function, localization, and interactions. The UAB-CCKDCC has assembled a multidisciplinary team of researchers to carry out these goals and actively recruit new and established investigators to the field. The Center will generate and provide researchers with patient relevant models of CCKD and establish methodology to utilize these models to ascertain the efficacy of candidate therapies to slow disease progression using a standardized, cost-effective, and longitudinal imaging strategy. The resources provided by the CCKDCC will help address several of the most significant hurdles slowing the development of therapeutic approaches and strategically recruit new scientists into the field. The Clinical, Translational, and Biorepository Resource (Core A) will compile clinical data, genetic information, and biological specimens from patients with recessive HRFD, as well as launch the US node of ADPedKD, an international, multicenter observational study of childhood ADPKD. This centralized resource is designed to accelerate discovery research in childhood cystic kidney diseases (partnership with Cores B and C). Integration of these resources under a unique identifier, combined with rigorous, detailed interviews of patient/caregiver health research experiences will inform the development of new, targeted interventional strategies (partnership with Core D). The Core will coordinate efforts with other U54-RTCCs, under direction of the U24-CCS and NIDDK, to develop and make the resources available to the PKD Research Consortium.