UAB Childhood Cystic Kidney Disease Center (UAB-CCKDC) - Childhood Clinical and Translational Resource

University Of Alabama At Birmingham, Birmingham AL

Investigators

Linked publications & trials

Abstract

PROJECT SUMMARY (CHILDHOOD CLINICAL AND TRANSLATIONAL RESOURCE: CCTR) The CCTR is designed to reduce barriers for childhood cystic kidney disease research and accelerate translational studies, including the development of novel therapeutics. In the next funding cycle, the CCTR will coordinate with other U54-Renal and Translational Core Centers through the PKD RRC Clinical Subcommittee and Steering Committee and NIDDK, to develop and make our resources available to the PKD Research Consortium. First, the CCTR will address the barriers posed by the limited numbers of patients with autosomal recessive polycystic kidney disease (ARPKD) and other recessive hepatorenal fibrocystic diseases (HRFD) by expanding and fully integrating our resources of clinical data, genetic information, and biological specimens (DNA, blood, urine, tissues). In addition, the CCTR will aggregate clinical data from children with autosomal dominant polycystic kidney disease (ADPKD) in ADPedKD-US, the US node of an international, multicenter observational study of pediatric ADPKD. The CCTR will focus recruitment efforts on the new PKD Foundation- designated Pediatric PKD Clinics and those Pediatric Nephrology Research Consortium (PNRC) sites that have actively contributed participants in the current funding cycle. To enhance enrollment in the Clinical Databases, the CCTR will pilot the implementation of ExtractEHR, a software package developed at the Children’s Hospital of Philadelphia (CHOP) that enables rapid, low-cost data extraction from the electronic health record (EHR). We will deploy an adapted instance of this software first at CHOP, then the Pediatric PKD Clinics, and ultimately broaden the network to include interested PNRC sites. Second, the CCTR will leverage the extensive resources and deep expertise at CHOP to establish a streamlined workflow for genomic and transcriptomic analyses of patients with genetically unresolved ARPKD/HRFD. In addition, the CCTR will partner with CHOP Anatomic Pathology and the Biorepository Resource Center to collect HRFD kidney and liver samples, as well as normal, remnant kidney and liver tissues from infant autopsies, for the CCTR Tissue Resource. Finally, we will utilize a suite of ARPKD patient-reported outcome measure (PROM) instruments to identify those clinical outcomes that are most important to affected patients/families. Taken together, the CCTR will serve as a centralized and fully integrated resource to facilitate the discovery of new knowledge about childhood PKD, including clinical markers of disease progression, genotype-phenotype correlations, and pathogenic mechanisms, as well as capture the voice/priorities of patients/caregivers to inform the development of future interventional studies.