Prospective Research Rare Kidney Stones (ProRKS)

Recruiting

• Conditions: Dent Disease; Cystinuria; Hyperoxaluria; Lowe Syndrome; Adenine Phosphoribosyltransferase Deficiency

• Registration Number: NCT02780297
• Lead Sponsor: Mayo Clinic

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.

Detailed Description

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.

Study Timeline

• Study Start: 2016-05
• Study First Submitted: 2016-05-11
• Study First Submitted QC: 2016-05-20
• Study First Posted: 2016-05-23
• Status Verified: 2024-08
• Last Update Submitted: 2024-08-01
• Last Update Posted: 2024-08-02
• Primary Completion: 2026-07
• Study Completion: 2026-07

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 220

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
inflammatory blood and urinary biomarkers	Annually for 5 years	Statistically significant changes (increase or decrease) in inflammatory urinary biomarkers compared to reference values

Secondary Outcome Measures

Name	Time	Method
Longitudinal changes in eGFR	Annually for 5 years	changes in eGFR during the 5 years

Trial Locations

Locations (11)

Children's Hospital, Harvard Medical School; 🇺🇸 Boston, Massachusetts, United States

Hosptial of Sick Children; 🇨🇦 Toronto, Ontario, Canada

University of Alabama @ Birmingham; 🇺🇸 Birmingham, Alabama, United States

Mayo Clinic Jacksonville; 🇺🇸 Jacksonville, Florida, United States

Children's Memorial Hospital; 🇺🇸 Chicago, Illinois, United States

Mayo Clinic Hyperoxaluria Center; 🇺🇸 Rochester, Minnesota, United States

Cincinnati Children's Hosptial Medical Center; 🇺🇸 Cincinnati, Ohio, United States

New York University; 🇺🇸 New York, New York, United States

Landspitali Universtiy Hospital; 🇮🇸 Reykjavik, Iceland

Shaare Zedek Medica Center; 🇮🇱 Jerusalem, Israel

Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States