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

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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.