Overview

About this study

This proposal aims to establish a new imaging biomarker for patients affected by Autosomal Dominant Polycystic Kidney Disease (ADPKD), which is the most common genetic renal disease worldwide. This research program has identified the existence of a gap in our knowledge in terms of internal cyst composition and its implication on the natural history of the disease. Specifically, cyst fluids have been shown to have a large range of sodium levels. However, noninvasively assessing cyst fluid sodium concentration has not been realized to date. Therefore, this research program will provide a new non-invasive biomarker for characterizing the PKD kidney by developing sodium MR imaging for this purpose. The imaging method will measure individual cyst sodium concentrations non-invasively. Approximately 1:500 individuals are born with the genetically inherited disease, ADPKD. Patients affected by ADPKD develop multiple cysts in both kidneys which ultimately causes the kidneys to stop functioning properly. How the disease progresses over a patient’s lifetime is highly variable, with even large differences between family members (who carry the same genetic mutation). Kidney function may be stable for many years until a rapid decrease is observed as kidney function progressively declines, resulting in the need for dialysis or transplantation. It is still unknown how to provide personalized care for individuals with PKD. In general, current disease markers are informative in large studies, but do not scale to an individual due to the large variability of the disease. Providing a method that goes beyond the size of the kidneys and provides important information about structure and function will be a large step forward in this direction. One of the most important tools for diagnosis and management of patients with ADPKD is through the use of radiological imaging technologies. Total kidney volume (TKV) measured by imaging, predicts the decline of renal function and is used as a biomarker for ADPKD. Research, clinical trials, and increasingly clinical nephrology use these measurements to monitor disease progression in both patients and animals, estimate the effectiveness of therapies, predict outcomes, and is most recently also used as a metric for clinical decision making of the recently approved treatment tolvaptan. Nevertheless, there remain a number of unexplored avenues for characterizing renal tissue structure and function by radiological image examinations. For one, an exciting opportunity to investigate the story inside the cysts is possible through the use of sodium MR imaging which has not been explored in PKD. This study is highly innovative as it will characterize properties of the PKD kidney never before explored non-invasively. The research program will lead to the non-invasive assessment of cyst sodium concentrations and will open the door to a completely untapped biomarker of PKD. Our proposal will also facilitate new research studies that are currently lacking in the field of PKD. The findings will form the foundation for further research studies examining the potential diagnostic performance of the novel biomarkers identified through this work.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Participating Mayo Clinic locations

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