An observational study in Hyperoxaluria, Cystinuria and Dent Disease, sponsored by Mayo Clinic. Recruiting at 11 sites in 4 countries. Per ClinicalTrials.gov, last updated 2026-08-07.
Sponsored by Mayo Clinic · Observational
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.
51 studies on the registry are indexed under Hyperoxaluria; 11 are open to participants now.
This study's planned enrollment of 220 is close to the median of 220 across 13 observational studies indexed under Hyperoxaluria.
Browse Hyperoxaluria studies →Mayo Clinic is the lead sponsor of 3,269 studies on the registry; 672 are open to participants now.
Of its 452 completed or terminated interventional studies of FDA-regulated products, 321 (71%) have results posted.
Counted across the registry records on this site, refreshed daily.
Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency, Lowe syndrome, Dent Disease Carriers and Enteric Hyperoxaluria
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Patients with confirmed diagnosis of Primary Hyperoxaluria.
Patients with confirmed diagnosis of Dent Disease.
Patients with confirmed diagnosis of Cystinuria.
Patients with confirmed diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)
Patients with confirmed diagnosis of Lowe Syndrome or Dent 2.
Patients with confirmed diagnosis of Dent 1. Dent 1 carriers
Patients with confirmed diagnosis enteric hyperoxaluria.
inflammatory blood and urinary biomarkers
Statistically significant changes (increase or decrease) in inflammatory urinary biomarkers compared to reference values
Time frame: Annually for 5 years
Longitudinal changes in eGFR
changes in eGFR during the 5 years
Time frame: Annually for 5 years
Development of new onset CKD
Development of new onset CKD stage 4 (eGFR\<30) or stage 5 (eGFR\<15)
Time frame: Annually for 5 years
Lithogenic substances in the urine
Quantity of change in the substance in the urine
Time frame: Annually for 5 years
Protein in the urine
change in protein in the urine
Time frame: Annually for 5 years
Stone events
change in number of stone events
Time frame: Annually for 5 years
Quality of Life
change in the quality of life score
Time frame: Annually for 5 years
Plan to share: No
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