Ignite Creation Date:
2025-12-24 @ 10:18 PM
Ignite Modification Date:
2026-01-27 @ 10:52 PM
Study NCT ID:
NCT03305835
Status:
RECRUITING
Last Update Posted:
2025-04-04
First Post:
2017-10-05
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Monogenic Kidney Stone - Genetic Testing
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006960', 'term': 'Hyperoxaluria, Primary'}, {'id': 'D006959', 'term': 'Hyperoxaluria'}, {'id': 'D057973', 'term': 'Dent Disease'}, {'id': 'D003555', 'term': 'Cystinuria'}, {'id': 'C538228', 'term': 'Adenine phosphoribosyltransferase deficiency'}], 'ancestors': [{'id': 'D007674', 'term': 'Kidney Diseases'}, {'id': 'D014570', 'term': 'Urologic Diseases'}, {'id': 'D052776', 'term': 'Female Urogenital Diseases'}, {'id': 'D005261', 'term': 'Female Urogenital Diseases and Pregnancy Complications'}, {'id': 'D000091642', 'term': 'Urogenital Diseases'}, {'id': 'D052801', 'term': 'Male Urogenital Diseases'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D015499', 'term': 'Renal Tubular Transport, Inborn Errors'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D000608', 'term': 'Renal Aminoacidurias'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'DNA samples retained for potential future use, with consent of subjects only.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 6000}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2017-09-11', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-04', 'completionDateStruct': {'date': '2028-02', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-04-01', 'studyFirstSubmitDate': '2017-10-05', 'studyFirstSubmitQcDate': '2017-10-05', 'lastUpdatePostDateStruct': {'date': '2025-04-04', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2017-10-10', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2028-02', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'symptomatic onset of monogenic stone disease', 'timeFrame': '5 years', 'description': 'To identify and define the etiology of monogenic diseases causing nephrolithiasis and nephrocalcinosis by the 90 gene mutation possibly for identification.'}], 'secondaryOutcomes': [{'measure': 'Genotype markers', 'timeFrame': '5 years', 'description': 'Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Primary Hyperoxaluria (PH)', 'Hyperoxaluria', 'PH', 'PH 1', 'PH 2', 'PH 3', 'Dent Disease', 'Dent 1', 'Dent 2', 'Cystinuria', 'APRT Deficiency', '24-Hydroxylase Deficiency', 'CYP24A1'], 'conditions': ['Rare Kidney Stone Diseases']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'http://www.rarekidneystones.org', 'label': 'Rare Kidney Stone Consortium'}]}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '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\n\nIn addition to the above testing, family members may be asked to participate in the following:\n\n• 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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '* Patients with clinical characteristics suggestive of monogenic stone disease.\n* Family members of patients with clinical characteristics suggestive of monogenic stone disease.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\nParticipants meet at least one of the following criteria:\n\n1. Patients \\<18yrs with a history of kidney stones, and/or nephrocalcinosis, OR\n2. Patients \\>18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:\n\n 1. Family history of stones or nephrocalcinosis or unexplained kidney failure\n 2. Growth retardation\n 3. Metabolic bone disease\n 4. Unusual stone composition or pathologic or urinary crystals\n 5. Proteinuria\n 6. Reduced glomerular filtration rate (GFR)\n 7. Hypomagnesemia or hypophosphatemia or hypercalcemia\n 8. Increased oxalate\n 9. Renal cysts, OR\n3. Patients with a high clinical suspicion for a monogenic kidney stone disease or a disorder of calcium metabolism OR\n4. 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\n5. 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\n6. Family member of a patient that meets at least one of the above criteria\n\nExclusion Criteria:\n\n1. Stone formers who do not meet the inclusion criteria for clinical suspicion of one of the monogenic kidney stone diseases\n2. Unwilling or unable to provide consent/assent'}, 'identificationModule': {'nctId': 'NCT03305835', 'briefTitle': 'Monogenic Kidney Stone - Genetic Testing', 'organization': {'class': 'OTHER', 'fullName': 'Mayo Clinic'}, 'officialTitle': 'Characterization of Monogenic Kidney Stone Diseases', 'orgStudyIdInfo': {'id': '17-005513'}, 'secondaryIdInfos': [{'id': 'U54DK083908', 'link': 'https://reporter.nih.gov/quickSearch/U54DK083908', 'type': 'NIH'}]}, 'contactsLocationsModule': {'locations': [{'zip': '55905', 'city': 'Rochester', 'state': 'Minnesota', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'RKSC Study Coordinators', 'role': 'CONTACT', 'email': 'RareKidneyStones@mayo.edu', 'phone': '800-270-4637'}], 'facility': 'Mayo Clinic', 'geoPoint': {'lat': 44.02163, 'lon': -92.4699}}], 'centralContacts': [{'name': 'RKSC Study Coordinators', 'role': 'CONTACT', 'email': 'RareKidneyStones@mayo.edu', 'phone': '800-270-4637'}], 'overallOfficials': [{'name': 'David Sas, DO', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Mayo Clinic'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'Using a limited data set, plans to share data in accordance with NIH funding expectations.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Mayo Clinic', 'class': 'OTHER'}, 'collaborators': [{'name': 'National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)', 'class': 'NIH'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator', 'investigatorFullName': 'David J. Sas', 'investigatorAffiliation': 'Mayo Clinic'}}}}