Prospective Research Rare Kidney Stones (ProRKS)

Sponsor

Mayo Clinic (Other)

Overall Status

Recruiting

CT.gov ID

NCT02780297

Collaborator

(none)

220

Enrollment

Locations

Duration (Months)

Patients Per Site

0.2

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Hyperoxaluria Cystinuria Dent Disease Lowe Syndrome Adenine Phosphoribosyltransferase Deficiency

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 Design

Study Type:

Observational

Anticipated Enrollment :

220 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Prospective Research Rare Kidney Stones (ProRKS)

Study Start Date :

May 1, 2016

Anticipated Primary Completion Date :

Jul 1, 2024

Anticipated Study Completion Date :

Jul 1, 2024

Arms and Interventions

Arm	Intervention/Treatment
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.

Outcome Measures

Primary Outcome Measures

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

Longitudinal changes in eGFR [Annually for 5 years]
changes in eGFR during the 5 years

Other Outcome Measures

Development of new onset CKD [Annually for 5 years]
Development of new onset CKD stage 4 (eGFR<30) or stage 5 (eGFR<15)
Lithogenic substances in the urine [Annually for 5 years]
Quantity of change in the substance in the urine
Protein in the urine [Annually for 5 years]
change in protein in the urine
Stone events [Annually for 5 years]
change in number of stone events
Quality of Life [Annually for 5 years]
change in the quality of life score

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

Diagnosis of primary hyperoxaluria
Diagnosis of enteric hyperoxaluria
Diagnosis of Dent Disease
Diagnosis of Cystinuria
Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)
Diagnosis of Lowe Syndrome
Diagnosis of Dent Disease Carrier

Exclusion Criteria:

Prior renal failure
History of liver and/or kidney transplant.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of Alabama @ Birmingham	Birmingham	Alabama	United States	35294
2	Mayo Clinic Jacksonville	Jacksonville	Florida	United States	32224
3	Children's Memorial Hospital	Chicago	Illinois	United States	60614
4	Children's Hospital, Harvard Medical School	Boston	Massachusetts	United States	02115
5	Mayo Clinic Hyperoxaluria Center	Rochester	Minnesota	United States	55905
6	New York University	New York	New York	United States	10010
7	Cincinnati Children's Hosptial Medical Center	Cincinnati	Ohio	United States	45229
8	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States	19104
9	Hosptial of Sick Children	Toronto	Ontario	Canada	M5G 1X8
10	Landspitali Universtiy Hospital	Reykjavik		Iceland
11	Shaare Zedek Medica Center	Jerusalem		Israel