Prospective Research Rare Kidney Stones (ProRKS)

Cystinuria Clinical Trial

— ProRKS  

Official title:

Prospective Research Rare Kidney Stones (ProRKS)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02780297
• Other study ID #: 16-000494
• Status: Recruiting
• Start date: May 2016
• Est. completion date: July 2024

Study information

• Verified date: November 2023
• Source: Mayo Clinic
• Contact: Barb Seide
• Phone: 800-270-4637
• Email: RareKidneyStones[@]mayo.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 220
• Est. completion date: July 2024
• Est. primary completion date: July 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Adenine Phosphoribosyltransferase Deficiency
• Cystinuria
• Dent Disease
• Hyperoxaluria
• Kidney Calculi
• Lowe Syndrome
• Metabolism, Inborn Errors
• Oculocerebrorenal Syndrome
• Urolithiasis

Locations

Country	Name	City	State
Canada	Hosptial of Sick Children	Toronto	Ontario
Iceland	Landspitali Universtiy Hospital	Reykjavik
Israel	Shaare Zedek Medica Center	Jerusalem
United States	University of Alabama @ Birmingham	Birmingham	Alabama
United States	Children's Hospital, Harvard Medical School	Boston	Massachusetts
United States	Children's Memorial Hospital	Chicago	Illinois
United States	Cincinnati Children's Hosptial Medical Center	Cincinnati	Ohio
United States	Mayo Clinic Jacksonville	Jacksonville	Florida
United States	New York University	New York	New York
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Mayo Clinic Hyperoxaluria Center	Rochester	Minnesota

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Countries where clinical trial is conducted

United States,  Canada,  Iceland,  Israel, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Development of new onset CKD	Development of new onset CKD stage 4 (eGFR<30) or stage 5 (eGFR<15)	Annually for 5 years
Other	Lithogenic substances in the urine	Quantity of change in the substance in the urine	Annually for 5 years
Other	Protein in the urine	change in protein in the urine	Annually for 5 years
Other	Stone events	change in number of stone events	Annually for 5 years
Other	Quality of Life	change in the quality of life score	Annually for 5 years
Primary	inflammatory blood and urinary biomarkers	Statistically significant changes (increase or decrease) in inflammatory urinary biomarkers compared to reference values	Annually for 5 years
Secondary	Longitudinal changes in eGFR	changes in eGFR during the 5 years	Annually for 5 years

External Links

•   Mayo Clinic Clinical Trials