Prospective Research Rare Kidney Stones (ProRKS)

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

220 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-05-31

Study Completion Date

2026-07-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Hyperoxaluria Cystinuria Dent Disease Lowe Syndrome Adenine Phosphoribosyltransferase Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Primary Hyperoxaluria Patients

Patients with confirmed diagnosis of Primary Hyperoxaluria.

No interventions assigned to this group

Dent Disease Patients

Patients with confirmed diagnosis of Dent Disease.

No interventions assigned to this group

Cystinuria Patients

Patients with confirmed diagnosis of Cystinuria.

No interventions assigned to this group

APRT deficiency Patients

Patients with confirmed diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)

No interventions assigned to this group

Lowe Syndrome or Dent 2 patients

Patients with confirmed diagnosis of Lowe Syndrome or Dent 2.

No interventions assigned to this group

Dent 1 carriers

Patients with confirmed diagnosis of Dent 1. Dent 1 carriers

No interventions assigned to this group

Enteric Hyperoxaluria Patients

Patients with confirmed diagnosis enteric hyperoxaluria.

No interventions assigned to this group

Eligibility Criteria

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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.

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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John Lieske

PI

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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John Lieske, MD

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

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