Prospective Research Rare Kidney Stones (ProRKS)



Status:Recruiting
Conditions:Other Indications, Nephrology, Nephrology, Nephrology
Therapuetic Areas:Nephrology / Urology, Other
Healthy:No
Age Range:Any
Updated:10/20/2018
Start Date:May 2016
End Date:July 2024
Contact:Barb Seide
Email:RareKidneyStones@mayo.edu
Phone:800-270-4637

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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.

Severe, hereditary forms of nephrolithiasis cause marked excretion of insoluble minerals
important in stone formation, including primary hyperoxaluria, cystinuria, Dent disease, and
adenine phosphoribosyltransferase deficiency (APRTd). Patients with these disorders
experience recurring stones from childhood and are at high risk for chronic kidney disease
caused by crystal nephropathy. Enteric hyperoxaluria is an acquired disease characterized by
hyperoxaluria and calcium oxalate crystal nephropathy associated with chronic kidney disease,
and in that respect similar to the inherited stone diseases. The investigators will collect
longitudinal data of individual patients in order to provide clues about potentially
modifiable factors that influence disease severity and identify factors leading to kidney
injury. the investigator will measure blood and urinary markers of inflammation and determine
relationship to the disease course. Cross-comparisons among the disorders will allow to
better evaluate mechanisms of renal dysfunction in these diseases.

Inclusion Criteria:

1. Diagnosis of primary hyperoxaluria

2. Diagnosis of enteric hyperoxaluria

3. Diagnosis of Dent Disease

4. Diagnosis of Cystinuria

5. Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)

6. Diagnosis of Lowe Syndrome

7. Diagnosis of Dent Disease Carrier

Exclusion Criteria:

1. Prior renal failure

2. History of liver and/or kidney transplant.
We found this trial at
9
sites
South 34th Street
Philadelphia, Pennsylvania 19104
 215-590-1000
Principal Investigator: Lawrence Copelovitch, MD
Phone: 267-425-3937
Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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1720 2nd Ave S
Birmingham, Alabama 35233
(205) 934-4011 
Principal Investigator: Dean Assimos, MD
Phone: 205-996-2613
University of Alabama at Birmingham The University of Alabama at Birmingham (UAB) traces its roots...
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300 Longwood Avenue
Boston, Massachusetts 02115
Principal Investigator: Michelle Baum, MD
Phone: 617-355-6129
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Chicago, Illinois 60614
Principal Investigator: Craig Langman, M.D.
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Chicago, IL
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3333 Burnet Avenue
Cincinnati, Ohio 45229
Principal Investigator: Prasad Decarajan, MD
Phone: 515-636-4200
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Cincinnati, OH
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Jacksonville, Florida 32216
Principal Investigator: William Haley, MD
Phone: 904-953-3071
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Jacksonville, FL
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70 Washington Square S
New York, New York 10012
(212) 998-1212
Principal Investigator: David Goldfarb, MD
Phone: 216-686-7500
New York University More than 175 years ago, Albert Gallatin, the distinguished statesman who served...
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New York, NY
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Rochester, Minnesota 55905
Principal Investigator: Dawn Milliner, MD
Phone: 800-270-4637
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Rochester, MN
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555 University Avenue
Toronto, Ontario M5G 1X8
Principal Investigator: Elizabeth Harvey, MD
Phone: 416-813-5082
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Toronto,
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