<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT03305835</url>
  </required_header>
  <id_info>
    <org_study_id>17-005513</org_study_id>
    <secondary_id>U54DK083908</secondary_id>
    <nct_id>NCT03305835</nct_id>
  </id_info>
  <brief_title>Monogenic Kidney Stone - Genetic Testing</brief_title>
  <official_title>Characterization of Monogenic Kidney Stone Diseases</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Mayo Clinic</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)</agency>
      <agency_class>NIH</agency_class>
    </collaborator>
  </sponsors>
  <source>Mayo Clinic</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      This study will attempt to identify the specific gene (coded in the DNA) and changes&#xD;
      (mutations) within that gene that are the cause of monogenic kidney stone disease. This study&#xD;
      will help researchers determine the characteristics of the stone disease associated with&#xD;
      specific genes and mutations. This information may help develop more effective treatments for&#xD;
      monogenic kidney stone diseases.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Have a blood test (about 2 teaspoons; ½ to 1 teaspoons for children) or buccal cell&#xD;
      collection for DNA or RNA isolation • Complete a kidney stone history questionnaire&#xD;
&#xD;
      In addition to the above testing, family members may be asked to participate in the&#xD;
      following:&#xD;
&#xD;
      • Complete a 24 hr. urine collection Your samples will undergo genetic testing. We will share&#xD;
      the results with your local doctor. All family members, of a patient whose genetic testing&#xD;
      showed no known mutations, will not be tested. These samples will be stored for future&#xD;
      research.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">September 11, 2017</start_date>
  <completion_date type="Anticipated">February 2028</completion_date>
  <primary_completion_date type="Anticipated">February 2028</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Retrospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>symptomatic onset of monogenic stone disease</measure>
    <time_frame>5 years</time_frame>
    <description>To identify and define the etiology of monogenic diseases causing nephrolithiasis and nephrocalcinosis by the 90 gene mutation possibly for identification.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Genotype markers</measure>
    <time_frame>5 years</time_frame>
    <description>Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification.</description>
  </secondary_outcome>
  <enrollment type="Anticipated">6000</enrollment>
  <condition>Rare Kidney Stone Diseases</condition>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      DNA samples retained for potential future use, with consent of subjects only.&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        -  Patients with clinical characteristics suggestive of monogenic stone disease.&#xD;
&#xD;
          -  Family members of patients with clinical characteristics suggestive of monogenic stone&#xD;
             disease.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        Participants meet at least one of the following criteria:&#xD;
&#xD;
          1. Patients &lt;18yrs with a history of kidney stones, and/or nephrocalcinosis, OR&#xD;
&#xD;
          2. Patients &gt;18yrs with a history of kidney stones, and/or nephrocalcinosis and at least&#xD;
             one of the following:&#xD;
&#xD;
               1. Family history of stones or nephrocalcinosis or unexplained kidney failure&#xD;
&#xD;
               2. Growth retardation&#xD;
&#xD;
               3. Metabolic bone disease&#xD;
&#xD;
               4. Unusual stone composition or pathologic or urinary crystals&#xD;
&#xD;
               5. Proteinuria&#xD;
&#xD;
               6. Reduced glomerular filtration rate (GFR)&#xD;
&#xD;
               7. Hypomagnesemia or hypophosphatemia or hypercalcemia&#xD;
&#xD;
               8. Increased oxalate&#xD;
&#xD;
               9. Renal cysts, OR&#xD;
&#xD;
          3. Patients with a high clinical suspicion for a monogenic kidney stone disease or a&#xD;
             disorder of calcium metabolism OR&#xD;
&#xD;
          4. Patients previously enrolled in the Rare Kidney Stone Consortium 6406 protocol&#xD;
             (identified as legacy samples), &quot;Genetic Characterization and Genotype/Phenotype&#xD;
             Correlations in Primary Hyperoxaluria.&quot; These patients have already consented for&#xD;
             their samples to be used in genetic research and that consent will serve to enroll&#xD;
             them in this study, OR&#xD;
&#xD;
          5. Patients previously enrolled in the Rare Kidney Stone Consortium 6403 protocol&#xD;
             (identified as legacy samples), &quot;Screening for Dent Disease Mutations in Patients with&#xD;
             Proteinuria or Hypercalciuria and Calcium Urolithiasis.&quot; These patients have already&#xD;
             consented for their samples to be used in genetic research and that consent will serve&#xD;
             to enroll them in this study, OR&#xD;
&#xD;
          6. Family member of a patient that meets at least one of the above criteria&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          1. Stone formers who do not meet the inclusion criteria for clinical suspicion of one of&#xD;
             the monogenic kidney stone diseases&#xD;
&#xD;
          2. Unwilling or unable to provide consent/assent&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>David Sas, DO</last_name>
    <role>Principal Investigator</role>
    <affiliation>Mayo Clinic</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>RKSC Study Coordinators</last_name>
    <phone>800-270-4637</phone>
    <email>RareKidneyStones@mayo.edu</email>
  </overall_contact>
  <location>
    <facility>
      <name>Mayo Clinic</name>
      <address>
        <city>Rochester</city>
        <state>Minnesota</state>
        <zip>55905</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>RKSC Study Coordinators</last_name>
      <phone>800-270-4637</phone>
      <email>RareKidneyStones@mayo.edu</email>
    </contact>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>http://www.rarekidneystones.org/</url>
    <description>Rare Kidney Stone Consortium</description>
  </link>
  <link>
    <url>http://www.mayo.edu/research/clinical-trials</url>
    <description>Mayo Clinic Clinical Trials</description>
  </link>
  <verification_date>February 2023</verification_date>
  <study_first_submitted>October 5, 2017</study_first_submitted>
  <study_first_submitted_qc>October 5, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">October 10, 2017</study_first_posted>
  <last_update_submitted>February 28, 2023</last_update_submitted>
  <last_update_submitted_qc>February 28, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">March 2, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Mayo Clinic</investigator_affiliation>
    <investigator_full_name>David J. Sas</investigator_full_name>
    <investigator_title>Principal Investigator</investigator_title>
  </responsible_party>
  <keyword>Primary Hyperoxaluria (PH)</keyword>
  <keyword>Hyperoxaluria</keyword>
  <keyword>PH</keyword>
  <keyword>PH 1</keyword>
  <keyword>PH 2</keyword>
  <keyword>PH 3</keyword>
  <keyword>Dent Disease</keyword>
  <keyword>Dent 1</keyword>
  <keyword>Dent 2</keyword>
  <keyword>Cystinuria</keyword>
  <keyword>APRT Deficiency</keyword>
  <keyword>24-Hydroxylase Deficiency</keyword>
  <keyword>CYP24A1</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Kidney Calculi</mesh_term>
    <mesh_term>Nephrolithiasis</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
    <ipd_description>Using a limited data set, plans to share data in accordance with NIH funding expectations.</ipd_description>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT03305835
org study id: 17-005513
secondary id: U54DK083908
nct id: NCT03305835
lead sponsor: 
collaborator: 
has dmc: Yes
is fda regulated drug: No
is fda regulated device: No
This study will attempt to identify the specific gene (coded in the DNA) and changes
      (mutations) within that gene that are the cause of monogenic kidney stone disease. This study
      will help researchers determine the characteristics of the stone disease associated with
      specific genes and mutations. This information may help develop more effective treatments for
      monogenic kidney stone diseases.
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.
observational model: Cohort
time perspective: Retrospective
measure: symptomatic onset of monogenic stone disease
time frame: 5 years
description: To identify and define the etiology of monogenic diseases causing nephrolithiasis and nephrocalcinosis by the 90 gene mutation possibly for identification.
measure: Genotype markers
time frame: 5 years
description: Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification.
DNA samples retained for potential future use, with consent of subjects only.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: David Sas, DO
role: Principal Investigator
affiliation: Mayo Clinic
last name: RKSC Study Coordinators
phone: 800-270-4637
email: RareKidneyStones@mayo.edu
facility: 
status: Recruiting
contact: 
country: United States
url: http://www.rarekidneystones.org/
description: Rare Kidney Stone Consortium
url: http://www.mayo.edu/research/clinical-trials
description: Mayo Clinic Clinical Trials
responsible party type: Principal Investigator
investigator affiliation: Mayo Clinic
investigator full name: David J. Sas
investigator title: Principal Investigator
mesh term: Kidney Calculi
mesh term: Nephrolithiasis
sharing ipd: No
ipd description: Using a limited data set, plans to share data in accordance with NIH funding expectations.