Clinical and Translational Core

项目总结

Project Summary Despite recent advances in the development and testing of novel therapies for Autosomal Polycystic Kidney Disease (ADPKD), additional translational and clinical investigations are needed to better elucidate the mechanisms of disease progression and identify promising new therapies. The overall goals of the Maryland PKD Research and Translation Center Clinical and Translational Core are to create a robust platform to support clinical and translational investigation of human ADPKD, through the comprehensive phenotyping of ADPKD patients linked to a complete biorepository including human tissue samples and cell cultures, and prospectively ascertained PKD-related outcomes. We propose to develop: 1) A prospective observational study of N=200 ADPKD patients with comprehensive phenotyping, linked to a robust specimen biorepository, along with targeted plasma- and urine-based biomarker measurement and deep genotyping with whole exome sequencing. 2) A human ADPKD human tissue bank in collaboration with our Cell Culture and Engineering Core, comprising nephrectomy specimens with cyst-specific tissue samples, cyst fluid, and primary and immortalized cell cultures, linked to clinical phenotyping. 3) An electronic ADPKD patient registry, to promote the rapid and efficient screening and recruitment of APKD patients for clinical trials and ancillary observational studies. These resources will be promoted to and shared with new and established investigators in collaboration with the Administrative Core and the PKD Central Coordinating Site (CCS). We will further collaborate with investigators in the discovery and validation of novel biomarkers of ADPKD severity and progression, using our robust biorepository and biomarker laboratory facilities.