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Monogenic Kidney Stone - Genetic Testing

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ClinicalTrials.gov Identifier: NCT03305835
Recruitment Status : Recruiting
First Posted : October 10, 2017
Last Update Posted : May 14, 2019
Sponsor:
Information provided by (Responsible Party):
David J. Sas, Mayo Clinic

Brief Summary:
90 genes related to Monogenic Stone Disease will be determined via DNA analysis by the Mayo Rare Kidney Stone Consortium (RKSC) research staff.

Condition or disease
Rare Kidney Stone Diseases

Detailed Description:

Have a blood test (about 2 teaspoons; ½ to 1 teaspoons for children) or buccal cell collection for DNA or RNA isolation • Complete a kidney stone history questionnaire

In addition to the above testing, family members may be asked to participate in the following:

• Complete a 24 hr. urine collection Your samples will undergo genetic testing. We will share the results with your local doctor. All family members, of a patient whose genetic testing showed no known mutations, will not be tested. These samples will be stored for future research.


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Study Type : Observational
Estimated Enrollment : 2300 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Characterization of Monogenic Kidney Stone Diseases
Actual Study Start Date : September 11, 2017
Estimated Primary Completion Date : December 2020
Estimated Study Completion Date : December 2020





Primary Outcome Measures :
  1. symptomatic onset of monogenic stone disease [ Time Frame: 5 years ]
    To identify and define the etiology of monogenic diseases causing nephrolithiasis and nephrocalcinosis by the 90 gene mutation possibly for identification.


Secondary Outcome Measures :
  1. Genotype markers [ Time Frame: 5 years ]
    Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification.


Biospecimen Retention:   Samples With DNA
DNA samples retained for potential future use, with consent of subjects only.


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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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
  • Patients with clinical characteristics suggestive of monogenic stone disease.
  • Family members of patients with clinical characteristics suggestive of monogenic stone disease.
Criteria

Inclusion Criteria:

Participants meet at least one of the following criteria:

  1. Patients <18yrs with a history of kidney stones, and/or nephrocalcinosis, OR
  2. Patients >18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:

    1. Family history of stones or nephrocalcinosis or unexplained kidney failure
    2. Growth retardation
    3. Metabolic bone disease
    4. Unusual stone composition or pathologic or urinary crystals
    5. Proteinuria
    6. Reduced glomerular filtration rate (GFR)
    7. Hypomagnesemia or hypophosphatemia or hypercalcemia
    8. Increased oxalate
    9. Renal cysts, OR
  3. Patients with a high clinical suspicion for a monogenic kidney stone disease or a disorder of calcium metabolism OR
  4. Patients previously enrolled in the Rare Kidney Stone Consortium 6406 protocol (identified as legacy samples), "Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
  5. Patients previously enrolled in the Rare Kidney Stone Consortium 6403 protocol (identified as legacy samples), "Screening for Dent Disease Mutations in Patients with Proteinuria or Hypercalciuria and Calcium Urolithiasis." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
  6. Family member of a patient that meets at least one of the above criteria

Exclusion Criteria:

  1. Stone formers who do not meet the inclusion criteria for clinical suspicion of one of the monogenic kidney stone diseases
  2. Unwilling or unable to provide consent/assent

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): NCT03305835


Contacts
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Contact: Barb Seide 800-270-4637 RareKidneyStones@mayo.edu
Contact: Carly Banks 800-270-4637 RareKidneyStones@mayo.edu

Locations
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United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Barbara Seide    507-255-0387    hyperoxaluriacenter@mayo.edu   
Contact: Hyperoxaluria Center    800-270-4637    hyperoxaluriacenter@mayo.edu   
Sponsors and Collaborators
Mayo Clinic
Investigators
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Principal Investigator: John Lieske, MD Mayo Clinic

Additional Information:
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Responsible Party: David J. Sas, Principal Investigator, Mayo Clinic
ClinicalTrials.gov Identifier: NCT03305835     History of Changes
Other Study ID Numbers: 17-005513
First Posted: October 10, 2017    Key Record Dates
Last Update Posted: May 14, 2019
Last Verified: May 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: Using a limited data set, plans to share data in accordance with NIH funding expectations.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by David J. Sas, Mayo Clinic:
Primary Hyperoxaluria (PH)
Hyperoxaluria
PH
PH 1
PH 2
PH 3
Dent Disease
Dent 1
Dent 2
Cystinuria
APRT Deficiency
24-Hydroxylase Deficiency
CYP24A1
Additional relevant MeSH terms:
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Kidney Calculi
Nephrolithiasis
Calculi
Pathological Conditions, Anatomical
Kidney Diseases
Urologic Diseases
Urolithiasis
Urinary Calculi