Clinical Research Core

PROJECT SUMMARY The overall goal of the Clinical Research Core is to develop a rich, shareable repository of clinical data and biospecimens to support human autosomal dominant PKD (ADPKD) research. In the previous funding cycle, we developed the Early PKD Observational Cohort (EPOC), a multi-center cohort of 116 ADPKD patients, unique in its addition of children and young adults with early disease, together with unaffected individuals matched for age and undiagnosed, at-risk family members, that have now been followed longitudinally for up to 8 years. We have accumulated a repository of biospecimens of blood, urine and urinary exosomes collected at each annual visit, a databank of abdominal MRIs performed longitudinally at two-year intervals, and a carefully curated database of clinical and laboratory data. We developed a harmonized database containing data across all the clinical sites of the PKD Research Resource Consortium (PKD RRC). The aims of this proposal are (1) To continue to build and follow the EPOC longitudinal cohort and biorepository with the recruitment of 8–10 new ADPKD patients each year across University of Kansas Medical Center, University of Chicago, and Children’s Mercy Hospital, Kansas City. (2) Perform deep phenotyping of EPOC participants, including genotyping, and AI-based advanced imaging metrics of kidney cysts. (3) Enhance accessibility and interoperability of Clinical Core resources, including harmonization of data across the PKD RRC, developing a web-based data explorer, and mapping data to a common data model.