[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"cystinuria\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:cystinuria":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,60,88,123],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":28,"overallStatus":47,"whyStopped":4,"lastUpdateSubmitDate":48,"lastUpdatePostDateStruct":49,"startDateStruct":52,"completionDateStruct":54,"leadSponsor":56,"locationsCount":59},"100268928","prospective-research-rare-kidney-stones-prorks-100268928",false,"NCT02780297","Prospective Research Rare Kidney Stones (ProRKS)","ProRKS","Inclusion Criteria:\n\n1. Diagnosis of primary hyperoxaluria\n2. Diagnosis of enteric hyperoxaluria\n3. Diagnosis of Dent Disease\n4. Diagnosis of Cystinuria\n5. Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)\n6. Diagnosis of Lowe Syndrome\n7. Diagnosis of Dent Disease Carrier\n\nExclusion Criteria:\n\n1. Prior renal failure\n2. History of liver and\u002For kidney transplant.","ALL",{"count":18,"type":19},220,"ESTIMATED","OBSERVATIONAL","The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow us to better evaluate mechanisms of renal dysfunction in these disorders.",[23,24,25,26,27],"Hyperoxaluria","Cystinuria","Dent Disease","Lowe Syndrome","Adenine Phosphoribosyltransferase Deficiency",[29,25,30,31,26,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46],"primary hyperoxaluria","enteric hyperoxaluria","cystinuria","Adenine phosphoribosyltransferase deficiency","PH","APRTd","APRT","hyperoxaluria","oxalate","oxalosis","PH type 1","PH type 2","PH type 3","Dents","Dent","Dent 1","Dent 2","APRT deficiency","RECRUITING","2025-08-02",{"date":50,"type":51},"2025-08-06","ACTUAL",{"date":53,"type":4},"2016-05",{"date":55,"type":19},"2026-07",{"name":57,"class":58},"Mayo Clinic","OTHER",11,{"id":61,"slug":62,"hasResults":11,"nctId":63,"briefTitle":64,"officialTitle":65,"acronym":4,"eligibilityCriteria":66,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":67,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":69,"conditions":70,"keywords":73,"overallStatus":47,"whyStopped":4,"lastUpdateSubmitDate":79,"lastUpdatePostDateStruct":80,"startDateStruct":82,"completionDateStruct":84,"leadSponsor":86,"locationsCount":87},"100211206","rare-kidney-stone-consortium-biobank-100211206","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.",{"count":68,"type":19},2000,"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.",[71,25,72,24],"Primary Hyperoxaluria","APRT Deficiency",[33,29,36,74,75,76,77,43,42,25,44,45,24,35,46,78],"primary oxalosis","Primary Hyperoxaluria Type 1","Primary Hyperoxaluria Type 2","Primary Hyperoxaluria Type 3","Biobank","2025-07-18",{"date":81,"type":51},"2025-07-22",{"date":83,"type":4},"2013-05",{"date":85,"type":19},"2030-06",{"name":57,"class":58},1,{"id":89,"slug":90,"hasResults":11,"nctId":91,"briefTitle":92,"officialTitle":93,"acronym":94,"eligibilityCriteria":95,"healthyVolunteers":11,"sex":16,"minAge":96,"maxAge":97,"enrollmentInfo":98,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":100,"conditions":101,"keywords":102,"overallStatus":47,"whyStopped":4,"lastUpdateSubmitDate":115,"lastUpdatePostDateStruct":116,"startDateStruct":118,"completionDateStruct":120,"leadSponsor":122,"locationsCount":5},"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":99,"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.",[71,25,24,72],[33,103,104,105,106,107,108,109,71,110,23,111,24,112,35,113,114,43],"PH1","PH2","PH3","PHI","PHII","PHIII","PH NonI-NonII","Primary Oxalosis","Oxalate","Cystine","Adenine phosphoribosyl transferase deficiency","Dent disease","2025-07-02",{"date":117,"type":51},"2025-07-04",{"date":119,"type":4},"2003-07",{"date":121,"type":19},"2028-06",{"name":57,"class":58},{"id":124,"slug":125,"hasResults":11,"nctId":126,"briefTitle":127,"officialTitle":128,"acronym":129,"eligibilityCriteria":130,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":131,"targetDuration":133,"studyType":20,"phases":4,"briefSummary":134,"conditions":135,"keywords":4,"overallStatus":47,"whyStopped":4,"lastUpdateSubmitDate":215,"lastUpdatePostDateStruct":216,"startDateStruct":218,"completionDateStruct":220,"leadSponsor":222,"locationsCount":87},"100521150","national-registry-of-rare-kidney-diseases-100521150","NCT06065852","National Registry of Rare Kidney Diseases","National Registry of Rare Kidney Diseases (RaDaR)","RaDaR","* Kidney Rare Disease\n* Paeds and adults\n* Eligibility differs for each rare disease group\n* See: https:\u002F\u002Fukkidney.org\u002Frare-renal\u002Frecruitment",{"count":132,"type":19},35000,"30 Years","The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.\n\nThe purpose of this research is to:\n\n* Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition.\n* Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better.\n* Further the development of future treatments.\n\nParticipants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.",[27,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,24,154,25,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,26,189,190,191,192,193,194,195,196,197,198,199,71,200,201,202,203,204,205,206,207,208,209,210,211,212,213,214],"AH Amyloidosis","AHL Amyloidosis","AL Amyloidosis","Alport Syndrome","Atypical Hemolytic Uremic Syndrome","Autoimmune Distal Renal Tubular Acidosis","Autosomal Recessive Proximal Renal Tubular Acidosis","Autosomal Recessive Distal Renal Tubular Acidosis","Autosomal Dominant Polycystic Kidney Disease","Autosomal Recessive Polycystic Kidney Disease","Bartter Syndrome","BK Nephropathy","C3 Glomerulopathy With Monoclonal Gammopathy","C3 Glomerulopathy","Calciphylaxis","Crystalglobulinaemia","Crystal-storing Histiocytosis","Cystinosis","Dense Deposit Disease","Denys-Drash Syndrome","Dominant Hypophosphataemia With Nephrolithiasis and\u002For Osteoporosis","Drug Induced Fanconi Syndrome","Drug-Induced Hypomagnesemia","Drug-Induced Nephrogenic Diabetes Insipidus","Epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy","Fabry Disease","Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis","Familial Primary Hypomagnesemia With Hypocalcuria","Familial Primary Hypomagnesaemia With Normocalciuria","Familial Renal Glucosuria","Fanconi Renotubular Syndrome 1","Fanconi Renotubular Syndrome 2","Fanconi Renotubular Syndrome 3","Fibrillary Glomerulonephritis","Fibromuscular Dysplasia","Focal Segmental Glomerulosclerosis","Generalised Pseudohypoaldosteronism Type 1","Gitelman Syndrome","Heavy-Metal-Induced Fanconi Syndrome","Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes","Hereditary Renal Hypouricemia","Hereditary Hypophosphatemic Rickets With Hypercalciuria","Hyperuricaemic Nephropathy","IgA Nephropathy","Immunotactoid Glomerulonephritis With Organised Microtubular Mononoclonal Immunoglobulin Deposits","Inherited Renal Cancer Syndromes","Intracapillary Monoclonal IgM Without Cryoglobulin","Intraglomerular\u002FCapillary Lymphoma\u002FLeukaemia","Isolated Autosomal Dominant Hypomagnesaemia Glaudemans Type","Liddle Syndrome","Light Chain Cast Nephropathy","Light Chain Proximal Tubulopathy Without Crystals","Light Chain Proximal Tubulopathy With Crystals","Membranous Nephropathy","Membranoproliferative Glomerulonephritis","Medullary Cystic Kidney Disease","Minimal Change Nephropathy","Mitochondrial Disease Of The Kidney","Monoclonal Immunoglobulin Deposition Disease","Nail Patella Syndrome","Nephrogenic Diabetes Insipidus","Nephrogenic Syndrome of Inappropriate Antidiuresis","Nephronophthisis","Primary Hypomagnesemia With Secondary Hypocalcemia","Proliferative Glomerulonephritis With Monoclonal IgG Deposits","Proximal Tubulopathy Without Crystals","Pseudohypoaldosteronism Type 1, 2A-2E","Pure Red Cell Aplasia","Retroperitoneal Fibrosis","Sickle Cell Nephropathy","Shiga Toxin Associated Haemolytic Uraemic Syndrome","Steroid Resistant Nephrotic Syndrome","Steroid-Sensitive Nephrotic Syndrome","Thin Basement Membrane Nephropathy","Thrombotic Microangiopathy With Monoclonal Gammopathy","Type 1 Cryoglobulinaemic Glomerulonephritis","Tuberous Sclerosis","Unclassified Monoclonal Gammopathy Of Renal Significance","Vasculitis","2023-09-26",{"date":217,"type":51},"2023-10-04",{"date":219,"type":51},"2009-11-06",{"date":221,"type":19},"2039-12-31",{"name":223,"class":58},"UK Kidney Association"]