Hereditary forms of nephrolithiasis that cause marked excretion of insoluble minerals lead to recurring stones from childhood and risk for chronic kidney disease. Therefore, the Rare Kidney Stone Consortium (RKSC) was formed 5 years ago to advance the care of primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency. Secure, web-based registries and tissue banks have been established and are open for collaborative projects. The RKSC provides readily available disease information, diagnostic testing, hypotheses for pilot studies, and well-characterized patient groups for clinical trials. Partnerships with patient advocacy groups (PAGs) for each of the diseases allows rapid spread of information among patients, families, and local physicians. Together with our PAGs we recently hosted successful patient and family education days in New York, London, and Rochester, MN. We have expanded training and research opportunities for young investigators, and successfully directed them to rare diseases research. The primary goal of this RKSC renewal is to expand our successful base.
Specific aims are: (1) Integrate and engage patients and PAGs as research partners of the RKSC to improve disease outcomes. (2) Identify patients at risk of progressive loss of kidney function. (3) Identify pathways of kidney injury. (4) Identify novel therapeutic targets for potential pilot studies. The RKSC will pursue these goals in 4 interlinked projects, each centered around a disease process. A key component will be secure web-based patient databases used to support tissue bank programs and appropriate clinical studies. We will leverage our successful registries to establish active follow-up of prospective cohorts in this funding cycle. Longitudinal data collection will further define the natural history, quality of life, and inflammatory biosignature f each disease. The RKSC success has been recognized with significant co-funding of our programs by our affiliated PAGs and institutions this cycle ($198,500 +/year).

Public Health Relevance

Ready availability of diagnostic testing, pooling of data from patient experience, availability of tissue banks open to all investigators and a consortium for cooperative exchange of information among investigators, clinicians, and patients, and sharing of resources among researchers, will improve care and outcomes for patients with rare stone diseases and advance the science.

Agency
National Institute of Health (NIH)
Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
2U54DK083908-06
Application #
8765226
Study Section
Special Emphasis Panel ()
Program Officer
Rasooly, Rebekah S
Project Start
2009-09-08
Project End
2019-06-30
Budget Start
2014-09-20
Budget End
2015-06-30
Support Year
6
Fiscal Year
2014
Total Cost
$1,250,000
Indirect Cost
$386,331
Name
Mayo Clinic, Rochester
Department
Type
DUNS #
006471700
City
Rochester
State
MN
Country
United States
Zip Code
55905
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