Clinical Trials

We hypothesize that clinical studies to investigate the role of individual proteins in kidney stone pathogenesis have likely been confounded by an unknown variety of underlying renal pathologies. Therefore, we propose to examine urinary protein crystallization inhibitors in patient populations that have been carefully phenotyped relative to renal stone precursor lesions by direct endoscopic visualization. In collaboration with Project #1, our second major goal is to use these accurately phenotyped patients in order to adapt modern dual-energy CT technology to develop a reliable noninvasive technique to accurately and noninvasively determine stone composition and visualize the earliest kidney stone precursor lesions. Our long-term goal is to improve CT technology so that it can be used to allow large-scale clinical protocols of accurately phenotyped, hence, homogeneous, patient populations.

In a subset we will sample sterile stone, dental plaque, blood and urine samples for detailed microbiome analysis in order to determine the contribution of micro organisms to stone pathogensis.

The purpose of this study is to evaluate clinical complications, pattern of kidney function decline and identification of clinical variables related to progression of Autosomal Dominant Polycystic Kidney Disease (ADPKD).

This study aims to measure the percentage of time spent in hyperglycemia in patients on insulin therapy and evaluate diabetes related patient reported outcomes in kidney transplant recipients with type 2 diabetes. It also aimes to evaluate immunosuppression related patient reported outcomes in kidney transplant recipients with type 2 diabetes.

The aims of this study are to identify frailty trajectories and biomarkers of frailty after kidney transplantation. Subjects will be followed beginning immediately prior to kidney transplantation until 1 year after kidney transplantation. Frailty will be prospectively assessed using performance-based measures (Fried criteria and Short Physical Impairment Battery). The relationship between frailty measures and blood levels of promising candidate biomarkers will be analyzed.

The overall objective of this study is to define genes causing cystic kidney disease and to determine the degree to which variants at these cystic kidney disease genes underlie the clinical diversity of these disorders. This will provide an insight into the disease mechanisms, and explore novel mutation screening methods.  A combination of mutation screening in clinically characterized human cystic kidney disease populations, gene hunting and exploration of incompletely penetrant alleles in humans will provide a comprehensive picture of how mutations cause the resulting phenotype.

Primary Aims

1. In tissue, to discover and validate DNA methylation markers (MDMs) for detection of malignant renal and urothelial tumors.
2. In blood, to assess the accuracy of candidate MDMs from above for detection of malignant renal and urothelial tumors.

The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow us to better evaluate mechanisms of renal dysfunction in these disorders.

Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium

The natural course of autosomal dominant polycystic kidney disease (ADPKD) is highly variable and typically characterized by progressive enlargement of cysts within the kidneys.  ADPKD is a leading cause of end-stage renal disease.  Recently, a new medication called Tolvaptan has been approved by the FDA to slow progression of ADPKD.  Accurate, MR based kidney volume measurements are the best parameter for following the progression of ADPKD, and are suggested be acquired to measure progression and effects of Tolvaptan.  However, making these slice-by-slice volume measurements can be extremely time consuming when done manually.  The purpose of this work is to evaluate an AI algorithm to make the measurements.  The results of the algorithm will be reviewed by a qualified radiologist familiar with the algorithm’s results.  If the radiologist agrees with the results, kidney volumes (left, right and combined) will be recorded for clinical use.  The usage of the algorithm in this setting (with review by radiologist, and manual correction) is a minimal risk to the patients: a failure of the algorithm will have no impact on treatment and errors will be caught and corrected by the QC process. Because the algorithm will not be used solely for diagnosis or inform treatment without the confirmation of the diagnosis by another, medically established diagnostic product or procedure this study constitutes minimal risk to patients. 

The purpose of this study to collect blood samples and data to assess the diagnostic capability of an updated version of the Prospera™ test.  The current standard of care for detection of rejection in renal allograft recipients is serum creatinine, often used in combination with other blood tests such as proteinuria. Natera has developed an assay called Prospera™ to detect the amount of donor-derived cell-free DNA (dd-cfDNA), which is a marker of kidney rejection.