[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"aprt-deficiency\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:aprt-deficiency":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,55],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":27,"overallStatus":42,"whyStopped":4,"lastUpdateSubmitDate":43,"lastUpdatePostDateStruct":44,"startDateStruct":47,"completionDateStruct":49,"leadSponsor":51,"locationsCount":54},"100211206","rare-kidney-stone-consortium-biobank-100211206",false,"NCT02026388","Rare Kidney Stone Consortium Biobank","Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network","Inclusion Criteria:\n\n* Diagnosis of primary hyperoxaluria (PH) meeting one or more of the following criteria:\n\n  1. Liver biopsy documenting alanine-glyoxylate aminotransferase (AGT) activity below the normal reference range confirming PH type 1 OR Liver biopsy documenting glyoxylate reductase\u002Fhydroxypyruvate reductase (GR\u002FHPR) activity below the normal reference range confirming PH type 2\n  2. Molecular genetic analysis (DNA testing) confirming mutations known to cause PH type 1, PH type 2, or PH type 3\n  3. Urinary oxalate excretion of greater than 0.8 mmol\u002F1.73 m2\u002Fday (\\>70 mg\u002F1.73 m2\u002Fday) in the absence of a identifiable causes of secondary hyperoxaluria, including gastrointestinal disease known to cause enteric hyperoxaluria\n  4. A patient in end stage kidney failure, in whom neither a liver biopsy nor mutational analysis are available must have: (a) A plasma oxalate concentration of greater than 60 umol\u002FL and a kidney biopsy confirming extensive oxalate deposits OR (b) Evidence of systemic oxalosis\n  5. Participants in the previous protocol \"Tissue Bank of Urine, Blood, and Tissue Samples Collected from the Patients with Primary Hyperoxaluria\" 'Mayo IRB #' #80-04. They have already consented to bank their samples and that consent will serve to enroll them in this study.\n* Diagnosis of Dent disease meeting one or more of the following criteria:\n\n  1. Identified mutation of the gene that encodes for chloride exchange transporter 5 (CLCN5)\n  2. Low molecular weight proteinuria and hypercalciuria\n  3. Low molecular weight proteinuria and nephrocalcinosis\n* Diagnosis of APRT disease meeting one or more of the following criteria:\n\n  1. Suspected dihydroxyadeninuria and absent APRT enzyme activity measured in red blood cells (RBCs).\n  2. Homozygosity, or compound heterozygosity, for known disease-causing APRT mutations.\n  3. Passage of dihydroxyadenine stones (confirmed with stone analysis).\n* Diagnosis of Cystinuria meeting one or more of the following criteria:\n\n  1. Stone analysis demonstrating that the stone contains cystine\n  2. Increased urinary cystine excretion (\\>250 mg\u002Fgm creatinine)\n* Relative of someone with confirmed primary hyperoxaluria, Dent disease, APRT deficiency (also known as dihydroxyadeninuria), or cystinuria\n\nExclusion Criteria:\n\n1. Stone formers who do not meet the inclusion criteria for primary hyperoxaluria, cystinuria, Dent disease, or APRT deficiency.\n2. Unwilling or unable to provide consent\u002Fassent.","ALL",{"count":18,"type":19},2000,"ESTIMATED","OBSERVATIONAL","This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.",[23,24,25,26],"Primary Hyperoxaluria","Dent Disease","APRT Deficiency","Cystinuria",[28,29,30,31,32,33,34,35,36,24,37,38,26,39,40,41],"PH","primary hyperoxaluria","hyperoxaluria","primary oxalosis","Primary Hyperoxaluria Type 1","Primary Hyperoxaluria Type 2","Primary Hyperoxaluria Type 3","Dent","Dents","Dent 1","Dent 2","APRT","APRT deficiency","Biobank","RECRUITING","2025-07-18",{"date":45,"type":46},"2025-07-22","ACTUAL",{"date":48,"type":4},"2013-05",{"date":50,"type":19},"2030-06",{"name":52,"class":53},"Mayo Clinic","OTHER",1,{"id":56,"slug":57,"hasResults":11,"nctId":58,"briefTitle":59,"officialTitle":60,"acronym":61,"eligibilityCriteria":62,"healthyVolunteers":11,"sex":16,"minAge":63,"maxAge":64,"enrollmentInfo":65,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":67,"conditions":68,"keywords":69,"overallStatus":42,"whyStopped":4,"lastUpdateSubmitDate":83,"lastUpdatePostDateStruct":84,"startDateStruct":86,"completionDateStruct":88,"leadSponsor":90,"locationsCount":91},"100101856","rare-kidney-stone-consortium-patient-registry-100101856","NCT00588562","Rare Kidney Stone Consortium Patient Registry","Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases","RKSC","Inclusion Criteria:\n\n* Individuals must have a definitive diagnosis of Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.\n* Individuals have a family history of a sibling with Primary Hyperoxaluria,Dent Disease, Cystinuria or APRT Deficiency.\n\nExclusion Criteria:\n\n* Individuals who do not have Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.","0 Years","100 Years",{"count":66,"type":19},730,"The purpose of this study is to collect medical information from a large number of patients in many areas of the world with primary hyperoxaluria (PH), Dent disease, Cystinuria and APRT deficiency. This information will create a registry that will help us to compare similarities and differences in patients and their symptoms. The more patients we are able to enter into the registry, the more we will be able to understand the Primary Hyperoxalurias,Dent disease, cystinuria and APRT and learn better ways of caring for patients with these diseases.",[23,24,26,25],[28,70,71,72,73,74,75,76,23,77,78,79,26,80,39,81,82,35],"PH1","PH2","PH3","PHI","PHII","PHIII","PH NonI-NonII","Primary Oxalosis","Hyperoxaluria","Oxalate","Cystine","Adenine phosphoribosyl transferase deficiency","Dent disease","2025-07-02",{"date":85,"type":46},"2025-07-04",{"date":87,"type":4},"2003-07",{"date":89,"type":19},"2028-06",{"name":52,"class":53},4]