[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT03305835":3,"trial-entities:NCT03305835":86,"trial-summary:NCT03305835":92},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":20,"study_type":34,"primary_purpose":35,"phases":36,"enrollment_info":37,"interventions":40,"primary_outcomes":41,"secondary_outcomes":46,"sex":50,"minimum_age":35,"maximum_age":35,"healthy_volunteers":51,"eligibility_criteria":52,"std_ages":56,"locations":60,"central_contacts":75,"overall_officials":77,"references":81,"see_also_links":82},"NCT03305835","17-005513","Monogenic Kidney Stone - Genetic Testing","Characterization of Monogenic Kidney Stone Diseases","RECRUITING","2028-02","2026-04","2026-04-13","2017-09-11","Mayo Clinic","OTHER",true,"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\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.",[19],"Rare Kidney Stone Diseases",[21,22,23,24,25,26,27,28,29,30,31,32,33],"Primary Hyperoxaluria (PH)","Hyperoxaluria","PH","PH 1","PH 2","PH 3","Dent Disease","Dent 1","Dent 2","Cystinuria","APRT Deficiency","24-Hydroxylase Deficiency","CYP24A1","OBSERVATIONAL",null,[],{"count":38,"type":39},6000,"ESTIMATED",[],[42],{"measure":43,"description":44,"timeFrame":45},"symptomatic onset of monogenic stone disease","To identify and define the etiology of monogenic diseases causing nephrolithiasis and nephrocalcinosis by the 90 gene mutation possibly for identification.","5 years",[47],{"measure":48,"description":49,"timeFrame":45},"Genotype markers","Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification.","ALL",false,{"inclusion":53,"exclusion":54,"raw_text":55},[],[],"Inclusion Criteria:\n\nParticipants meet at least one of the following criteria:\n\n1. Patients \\\u003C18yrs with a history of kidney stones, and\u002For nephrocalcinosis, OR\n2. Patients \\>18yrs with a history of kidney stones, and\u002For 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\u002FPhenotype 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\u002Fassent",[57,58,59],"CHILD","ADULT","OLDER_ADULT",[61],{"facility":13,"status":8,"city":62,"state":63,"zip":64,"country":65,"contacts":66,"geoPoint":72},"Rochester","Minnesota","55905","United States",[67],{"name":68,"role":69,"phone":70,"email":71},"RKSC Study Coordinators","CONTACT","800-270-4637","RareKidneyStones@mayo.edu",{"lat":73,"lon":74},44.02163,-92.4699,[76],{"name":68,"role":69,"phone":70,"email":71},[78],{"name":79,"affiliation":13,"role":80},"David Sas, DO","PRINCIPAL_INVESTIGATOR",[],[83],{"label":84,"url":85},"Rare Kidney Stone Consortium","http:\u002F\u002Fwww.rarekidneystones.org",{"nct_id":4,"conditions":87,"biomarkers":91},[88,89,30,27,90,19],"21-Hydroxylase Deficiency","Adenine Phosphoribosyltransferase Deficiency","Primary Hyperoxaluria",[],{"nct_id":4,"found":15,"summary":93,"prompt_version":103},{"design":94,"status":95,"heading":96,"summary":97,"follow_up":98,"word_count":99,"commitments":100,"compensation":101,"drugs_mentioned":102},"This is an observational study planning to enroll 6000 participants. It aims to identify specific genes and mutations related to rare kidney stone diseases.","completed","Genetic Testing for Monogenic Kidney Stone Disease","This observational study aims to identify the specific genes and genetic changes (mutations) that cause rare kidney stone diseases. Researchers hope to understand how these genetic changes affect the disease, which could lead to better treatments. You might be eligible if you are under 18 with a history of kidney stones or nephrocalcinosis (calcium deposits in the kidneys), or if you are over 18 with kidney stones\u002Fnephrocalcinosis and a family history of stones or unexplained kidney failure, or growth problems. The study is looking to enroll 6000 participants. The main goal is to track when symptoms of monogenic stone disease first appear over five years. The recruitment status is currently unclear.","The primary endpoint, symptomatic onset of monogenic stone disease, will be measured at 5 years.",111,"You would provide a blood sample or buccal (cheek) cell collection for DNA\u002FRNA isolation and complete a kidney stone history questionnaire. Family members may also be asked to complete a 24-hour urine collection.","Not stated in the trial record.",[],"v2"]