Core 1: Human ADPKD Population and Materials Core

Mayo Clinic Rochester, Rochester MN

Investigators

Abstract

PROJECT SUMMARY: HUMAN ADPKD POPULATION AND MATERIALS (APM) CORE A major barrier in ADPKD is understanding disease variability with large, well characterized populations needed to understand the factors that influence disease presentation and progression. A second major roadblock to progress is unraveling disease pathogenesis of the human disease, where human materials are central to addressing the problem. The Human ADPKD Population and Materials (APM) Core within the MPRC is design to address these deficits in ADPKD research by sharing data and materials from Mayo ADPKD patients. The Mayo PKD Center has studied ADPKD for >25 years including imaging analysis, genetic screening, and genotype/phenotype studies and because of these ongoing studies >4000 ADPKD patients and family members have been recruited. Therefore, Mayo has a uniquely well characterized ADPKD population. These are well motivated patients who have in many cases been involved in clinical trials and so can provide an insight into patient motivations and their needs; information that will be captured through questionnaires. The APM Core is directed by an experienced and highly successful clinical researcher, Dr. Neera Dahl. In addition, Co-Investigators bring expertise in specific areas to the Core: Dr. Christan Hanna is a Pediatric Nephrologist with great insight into childhood PKD, Dr. Fouad Chebib is an experienced PKD Nephrologist from the Mayo Clinic, Florida, Dr. Timothy Kline with radiological imaging expertise, and Dr. Peter Harris with genetic expertise. The Core is organized into two Aims: 1: Collect and characterize a cohort of Mayo ADPKD patients: clinically, genetically and by imaging, and share through the PKD-RRC, and 2: Collect and provide biomaterials from ADPKD and other PKD/PLD patients. In Aim 1, anonymized data from 1250 ADPKD patients that are genetically characterized will be shared through the PKD-RRC, with longitudinal, deep clinical phenotyping data, include imaging provided. The population with include patients with extrarenal manifestations, children, and the minor ADPKD genes. We propose to add this population to others collected by the PKD-RRC; a larger population that can be studied to identify factors influencing disease severity. Aim 2, will house the Mayo Cystic Kidney and Liver Disease Biobank (CKLDB) that has and will collect serum and urine samples from ADPKD patients without kidney failure, and kidney and liver tissue at nephrectomy/resection from ADPKD patients. Frozen and fixed tissue will be stored and primary cell cultures grown from this material. These materials will be shared with the PKD community to study the pathogenesis of human ADPKD. Overall, these materials will greatly increase our understanding of ADPKD disease progression and pathogenesis