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Prospective Research Rare Kidney Stones (ProRKS) (ProRKS)

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ClinicalTrials.gov Identifier: NCT02780297
Recruitment Status : Recruiting
First Posted : May 23, 2016
Last Update Posted : November 14, 2022
Information provided by (Responsible Party):
John Lieske, 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.

Condition or disease
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.

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Study Type : Observational
Estimated Enrollment : 220 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prospective Research Rare Kidney Stones (ProRKS)
Study Start Date : May 2016
Estimated Primary Completion Date : July 2024
Estimated Study Completion Date : July 2024

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.

Primary Outcome Measures :
  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 Outcome Measures :
  1. Longitudinal changes in eGFR [ Time Frame: Annually for 5 years ]
    changes in eGFR during the 5 years

Other Outcome Measures:
  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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02780297

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Contact: Barb Seide 800-270-4637 RareKidneyStones@mayo.edu
Contact: Julie Olson, RN 800-270-4637 RareKidneyStones@mayo.edu

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United States, Alabama
University of Alabama @ Birmingham Not yet recruiting
Birmingham, Alabama, United States, 35294
Contact: Lisa Harvey    205-996-2613    lharvey@uab.edu   
Principal Investigator: Dean Assimos, MD         
United States, Florida
Mayo Clinic Jacksonville Not yet recruiting
Jacksonville, Florida, United States, 32224
Contact: Arta Palaj    904-953-3071    palaj.arta@mayo.edu   
Contact: Ivan Porter, MD       porter.ivan@mayo.edu   
Principal Investigator: William Haley, MD         
United States, Illinois
Children's Memorial Hospital Not yet recruiting
Chicago, Illinois, United States, 60614
Contact: Heather Price, MS       hprice@childrensmemorial.org   
Principal Investigator: Craig Langman, M.D.         
United States, Massachusetts
Children's Hospital, Harvard Medical School Not yet recruiting
Boston, Massachusetts, United States, 02115
Contact: Leslie Spaneas    617-355-6129    leslie.spaneas@childrens.harvard.edu   
Contact: Michael Somers, MD       michael.somers@childrens.harvard.edu   
Principal Investigator: Michelle Baum, MD         
United States, Minnesota
Mayo Clinic Hyperoxaluria Center Recruiting
Rochester, Minnesota, United States, 55905
Contact: Barb Seide    800-270-4637    hyperoxaluriacenter@mayo.edu   
Contact: Julie B Olson, RN    800-270-4637    hyperoxaluriacenter@mayo.edu   
Principal Investigator: Dawn Milliner, MD         
United States, New York
New York University Not yet recruiting
New York, New York, United States, 10010
Contact: Frank Modersitzki, MPH    216-686-7500 ext 6379    Frank.Modersitzki@nyumc.org   
Contact: Lada Beara-Lasic, MD       lada.bearalasic@nymc.org   
Principal Investigator: David Goldfarb, MD         
United States, Ohio
Cincinnati Children's Hosptial Medical Center Not yet recruiting
Cincinnati, Ohio, United States, 45229
Contact: Prasad Devarajan, MD    515-636-4200    prasad.devarajan@cchmc.org   
Principal Investigator: Prasad Decarajan, MD         
United States, Pennsylvania
Children's Hospital of Philadelphia Not yet recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Taylor Moatz    267-425-3937    moatzt@chop.edu   
Principal Investigator: Lawrence Copelovitch, MD         
Canada, Ontario
Hosptial of Sick Children Not yet recruiting
Toronto, Ontario, Canada, M5G 1X8
Contact: Lisa Robinson, MD    416-813-5082    lisa.robinson@sickkids.ca   
Contact: Elizabeth Harvey, MD    416-813-5082    Elizabeth.harvey@sickkids.ca   
Principal Investigator: Elizabeth Harvey, MD         
Landspitali Universtiy Hospital Not yet recruiting
Reykjavik, Iceland
Contact: Inger Agustsdottir, RN    354-824-5227    ingeragu@landspitali.is   
Principal Investigator: Vidar Edvardsson, MD         
Shaare Zedek Medica Center Not yet recruiting
Jerusalem, Israel
Contact: Yaacov Frishberg, MD       yaacovf@ekmd.huji.ac.il   
Principal Investigator: Yaacov Frishberg, MD         
Sponsors and Collaborators
Mayo Clinic
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Principal Investigator: John Lieske, MD Mayo Clinic
Additional Information:
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Responsible Party: John Lieske, PI, Mayo Clinic
ClinicalTrials.gov Identifier: NCT02780297    
Other Study ID Numbers: 16-000494
First Posted: May 23, 2016    Key Record Dates
Last Update Posted: November 14, 2022
Last Verified: November 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by John Lieske, Mayo Clinic:
primary hyperoxaluria
Dent Disease
enteric hyperoxaluria
Lowe Syndrome
Adenine phosphoribosyltransferase deficiency
PH type 1
PH type 2
PH type 3
Dent 1
Dent 2
APRT deficiency
Additional relevant MeSH terms:
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Oculocerebrorenal Syndrome
Kidney Calculi
Dent Disease
Metabolism, Inborn Errors
Kidney Diseases
Urologic Diseases
Urinary Calculi
Pathological Conditions, Anatomical
Renal Aminoacidurias
Renal Tubular Transport, Inborn Errors
Genetic Diseases, Inborn
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
Metabolic Diseases