[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"primary-hyperoxaluria\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:primary-hyperoxaluria":23},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,55,91,194],{"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":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":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},{"id":92,"slug":93,"hasResults":11,"nctId":94,"briefTitle":95,"officialTitle":96,"acronym":97,"eligibilityCriteria":98,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":99,"targetDuration":101,"studyType":20,"phases":4,"briefSummary":102,"conditions":103,"keywords":4,"overallStatus":42,"whyStopped":4,"lastUpdateSubmitDate":185,"lastUpdatePostDateStruct":186,"startDateStruct":188,"completionDateStruct":190,"leadSponsor":192,"locationsCount":54},"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":100,"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.",[104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,26,123,24,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,23,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184],"Adenine Phosphoribosyltransferase Deficiency","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","Lowe Syndrome","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":187,"type":46},"2023-10-04",{"date":189,"type":46},"2009-11-06",{"date":191,"type":19},"2039-12-31",{"name":193,"class":53},"UK Kidney Association",{"id":195,"slug":196,"hasResults":11,"nctId":197,"briefTitle":198,"officialTitle":199,"acronym":200,"eligibilityCriteria":201,"healthyVolunteers":11,"sex":16,"minAge":202,"maxAge":203,"enrollmentInfo":204,"targetDuration":4,"studyType":206,"phases":207,"briefSummary":209,"conditions":210,"keywords":211,"overallStatus":42,"whyStopped":4,"lastUpdateSubmitDate":213,"lastUpdatePostDateStruct":214,"startDateStruct":216,"completionDateStruct":218,"leadSponsor":220,"locationsCount":54},"100504097","genetic-newborn-screening-for-cystinosis-and-primary-hyperoxaluria-100504097","NCT05843851","Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria","Scientific Basis for a Newborn Screening for Cystinosis and Primary Hyperoxaluria","GENESIS","Inclusion Criteria:\n\n* Newborns participating at the NGS with parent's consent to participate in this screening project\n\nExclusion Criteria:\n\n* Newborns without parent's consent to participate in this screening project.","32 Hours","72 Hours",{"count":205,"type":19},200000,"INTERVENTIONAL",[208],"NA","In Germany parents of newborns are offered newborn screening (NBS) for 17 congenital diseases as a standard benefit of statutory health insurance. NBS in Germany is voluntary. Cystinosis and hyperoxaluria are very rare diseases. They are inherited autosomal-recessively. Neither disease can be detected by the methods established in routine NBS. However, common genetic mutations are known for both diseases.\n\nThe aim of the study is to provide a scientific basis for molecular genetic NBS for cystinosis and primary hyperoxaluria (PH). Specifically, the study will investigate whether the inclusion of these diseases into general NBS should be recommended. By observing the identified infants in comparison to patients symptomatically diagnosed outside of the pilot project, it will be determined whether and to what extent early diagnosis and therapy lead to a more favorable prognosis.\n\nThe screening laboratory Hannover, Germany is involved in the project. Hospitals that send their dry blood spot cards for routine NBS to Hannover are offered participation in the project.\n\nParents who want to participate receive an additional information sheet. A parent and the attending physician sign the information sheet as documentation of informed consent, which allows data transfer and patient referral to a specialist in case of a positive result. Molecular genetic screening in the pilot project is performed from the same dry blood spot card used for routine NBS.\n\nIn both diseases, testing is performed for 2 known mutations: In cystinosis for the 2 mutations most common in Germany, and in PH for the most common mutation in infantile hyperoxaluria (PH1) and in Europe (PH3).\n\nNormal findings are not communicated to the parents, which may contact the laboratory to ask for them. Parents of newborns with two mutations in the cystinosis gene are immediately informed about the disease by a physician. Further diagnostics to confirm the disease are organized close to home.\n\nIn contrast, parents of newborns with only one mutation in one of the two hyperoxaluria genes are informed. They are asked to send spot urines of the newborn to the hyperoxaluria center. Only if these are abnormal, further evaluation will be performed.\n\nThe study started on 15.03.2022. The aim is to screen 200,000 newborns until 2025. If the benefit of early diagnosis and therapy can be shown, an application for inclusion of a NBS for these two diseases in the routine NBS program will be submitted to the German government.",[122,23],[212,122,23],"Molecular based newborn screening","2023-04-24",{"date":215,"type":46},"2023-05-06",{"date":217,"type":46},"2022-03-15",{"date":219,"type":19},"2026-06-30",{"name":221,"class":53},"Cystinose Stiftung"]