Recruiting

Observational StudyProspective Research Rare Kidney Stones (ProRKS)

Sponsor:

Mayo Clinic

Code:

NCT02780297

Conditions

Hyperoxaluria

Cystinuria

Dent Disease

Lowe Syndrome

Adenine Phosphoribosyltransferase Deficiency

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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.

Conditions

Hyperoxaluria

Cystinuria

Dent Disease

Lowe Syndrome

Adenine Phosphoribosyltransferase Deficiency

Study ID

NCT02780297

Start date

May, 2016

Status verified date

Aug, 2026

Completion date

Jul, 2028

Anticipated

Primary completion date

Jul, 2028

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

220 participants

Anticipated

Interventions and Outcome Measures

Arms

Primary Hyperoxaluria Patients

Patients with confirmed diagnosis of Primary Hyperoxaluria.

Dent Disease Patients

Patients with confirmed diagnosis of Dent Disease.

Cystinuria Patients

Patients with confirmed diagnosis of Cystinuria.

APRT deficiency Patients

Patients with confirmed diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)

Lowe Syndrome or Dent 2 patients

Patients with confirmed diagnosis of Lowe Syndrome or Dent 2.

Dent 1 carriers

Patients with confirmed diagnosis of Dent 1. Dent 1 carriers

Enteric Hyperoxaluria Patients

Patients with confirmed diagnosis enteric hyperoxaluria.

Primary outcome measure

inflammatory blood and urinary biomarkers [ Time Frame: Annually for 5 years ]

Central Contacts and Locations

Central contacts

Barb Seide

800-270-4637 RareKidneyStones@mayo.edu

Julie Olson, RN

800-270-4637 RareKidneyStones@mayo.edu

Locations

Mayo Clinic Hyperoxaluria Center

Recruiting

Rochester, Minnesota, United States, 55905

Contacts

Barb Seide

800-270-4637 hyperoxaluriacenter@mayo.edu

Julie B Olson, RN

800-270-4637 hyperoxaluriacenter@mayo.edu

Principal Investigator:

Dawn Milliner, MD

More Information

Sponsor

Mayo Clinic

Last update posted

Aug 7, 2026

Last verified

Aug, 2026

Keywords

primary hyperoxaluria
Dent Disease
enteric hyperoxaluria
cystinuria
Lowe Syndrome
Adenine phosphoribosyltransferase deficiency
PH
APRTd
APRT
hyperoxaluria
oxalate
oxalosis
PH type 1
PH type 2
PH type 3
Dents
Dent
Dent 1
Dent 2
APRT deficiency

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Mayo Clinic on 2026-08-07.