Prospective Research Rare Kidney Stones (ProRKS)

NCT02780297 | Recruiting DMC

• 1 other identifier: 16-000494
• Study Type: observational
• Target: 220
• Locations: 4 countries
• Sites: 11

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

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

Outcome Measures

Primary Outcomes (1)

• inflammatory blood and urinary biomarkers

  Statistically significant changes (increase or decrease) in inflammatory urinary biomarkers compared to reference values

  Annually for 5 years

Secondary Outcomes (1)

• Longitudinal changes in eGFR

  Annually for 5 years

Other Outcomes (5)

• Development of new onset CKD

  Annually for 5 years

• Lithogenic substances in the urine

  Annually for 5 years

• Protein in the urine

  Annually for 5 years

Study Arms (7)

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency, Lowe syndrome, Dent Disease Carriers and Enteric Hyperoxaluria

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (11)

University of Alabama @ Birmingham

Birmingham, Alabama, 35294, United States

NOT YET RECRUITING

Mayo Clinic Jacksonville

Jacksonville, Florida, 32224, United States

NOT YET RECRUITING

Children's Memorial Hospital

Chicago, Illinois, 60614, United States

NOT YET RECRUITING

Children's Hospital, Harvard Medical School

Boston, Massachusetts, 02115, United States

NOT YET RECRUITING

Mayo Clinic Hyperoxaluria Center

Rochester, Minnesota, 55905, United States

RECRUITING

New York University

New York, New York, 10010, United States

NOT YET RECRUITING

Cincinnati Children's Hosptial Medical Center

Cincinnati, Ohio, 45229, United States

NOT YET RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

NOT YET RECRUITING

Hosptial of Sick Children

Toronto, Ontario, M5G 1X8, Canada

NOT YET RECRUITING

Landspitali Universtiy Hospital

Reykjavik, Iceland

NOT YET RECRUITING

Shaare Zedek Medica Center

Jerusalem, Israel

NOT YET RECRUITING

Related Links

• Mayo Clinic Clinical Trials

MeSH Terms

Conditions

Hyperoxaluria; Cystinuria; Dent Disease; Oculocerebrorenal Syndrome; Adenine phosphoribosyltransferase deficiency; Hyperoxaluria, Primary

Condition Hierarchy (Ancestors)

Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Renal Aminoacidurias; Renal Tubular Transport, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Amino Acid Transport Disorders, Inborn; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Carbohydrate Metabolism, Inborn Errors

Study Officials

• John Lieske, MD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Barb Seide

CONTACT

800-270-4637; RareKidneyStones@mayo.edu

Julie Olson, RN

CONTACT

800-270-4637; RareKidneyStones@mayo.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PI

Study Record Dates

• First Submitted: May 11, 2016
• First Posted: May 23, 2016
• Study Start: May 1, 2016
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): July 1, 2026
• Last Updated: August 6, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (8); CA (1); IL (1); IC (1)