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NCT Number: NCT02780297

Prospective Research Rare Kidney Stones (ProRKS)

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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Key information

Conditions

Hyperoxaluria Abnormalities, Multiple Adenine Phosphoribosyltransferase Deficiency Amino Acid Transport Disorders, Inborn Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cystinuria Dent Disease Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genetic Diseases, X-Linked Hyperoxaluria, Primary Kidney Diseases Lowe Syndrome Male Urogenital Diseases Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Oculocerebrorenal Syndrome Renal Aminoacidurias Renal Tubular Transport, Inborn Errors Urogenital Diseases Urologic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Hosptial of Sick Children, Toronto, Ontario, Canada

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. inflammatory blood and urinary biomarkers

    Time frame: Annually for 5 years

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

Secondary outcomes

  1. Longitudinal changes in eGFR

    Time frame: Annually for 5 years

    changes in eGFR during the 5 years

Other outcomes

  1. Development of new onset CKD

    Time frame: Annually for 5 years

    Development of new onset CKD stage 4 (eGFR<30) or stage 5 (eGFR<15)

  2. Lithogenic substances in the urine

    Time frame: Annually for 5 years

    Quantity of change in the substance in the urine

  3. Protein in the urine

    Time frame: Annually for 5 years

    change in protein in the urine

  4. Stone events

    Time frame: Annually for 5 years

    change in number of stone events

  5. Quality of Life

    Time frame: Annually for 5 years

    change in the quality of life score

Study contacts

Contact information is provided by the study sponsor or research team.

Barb Seide

CONTACT

[email protected]

800-270-4637

Julie Olson, RN

CONTACT

[email protected]

800-270-4637

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Registry information

Acronym: ProRKS

Important dates

Study start
2016
Primary completion
2026
Study completion
2026
First posted
May 23, 2016
Registry last updated
Aug 6, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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