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

摘要 UAB儿童囊性肾病核心中心（CCKDCC）的目标是与其他U 54合作， PKD中心，在U24协调中心网站（U24-CCS）的指导下，减少囊性病变的障碍 肾脏疾病研究导致PKD联盟成员进行更快速的转化研究， 开发新的治疗方法。UAB-CCKDCC将有助于解决与小型 通过提供临床数据和生物材料的访问，在个体直觉时可获得CCKD患者人群 来自美洲各地的人类CCKD患者。中心将重点开发资源 分析纤毛囊性疾病蛋白的功能，定位和相互作用。UAB-CCKDCC已组装 一个多学科的研究人员团队，以实现这些目标，并积极招募新的和建立 调查人员到现场。该中心将生成并向研究人员提供与患者相关的CCKD模型 并建立利用这些模型的方法，以确定候选疗法对减缓疾病的疗效， 使用标准化的、具有成本效益的和纵向的成像策略来评估进展。提供的资源 CCKDCC将有助于解决几个最重要的障碍，减缓治疗发展 方法和战略性地招募新的科学家进入该领域。 临床、转化和生物储存资源（核心A）将汇编临床数据、遗传信息， 和隐性HRFD患者的生物标本，以及启动ADPedKD的US节点， 儿童ADPKD的国际多中心观察性研究。这个集中的资源旨在 加速儿童囊性肾病的发现研究（与Cores B和C合作）。一体化 这些资源的唯一标识符下，结合严格的，详细的采访病人/照顾者 卫生研究经验将为制定新的、有针对性的干预战略提供信息（伙伴关系 核心D）。核心将在U24-CCS的指导下与其他U 54-RTCC协调工作， NIDDK，开发并向PKD研究联盟提供资源。

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.