[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"autosomal-recessive-polycystic-kidney-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:autosomal-recessive-polycystic-kidney-disease":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,53,104,132],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":35,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":41,"lastUpdatePostDateStruct":42,"startDateStruct":45,"completionDateStruct":47,"leadSponsor":49,"locationsCount":52},"100163551","arpkd-database-study-100163551",false,"NCT01401998","ARPKD Database Study","Core A: The Hepato\u002FRenal Fibrocystic Diseases Translational Resource (ARPKD Database Study)","ARPKD","Inclusion Criteria:\n\n* Demonstration of hepato\u002Frenal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing.\n\nExclusion Criteria:\n\n* ADPKD Urinary tract malformations Major congenital anomalies of other systems","ALL","18 Years",{"count":20,"type":21},200,"ESTIMATED","OBSERVATIONAL","Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, congenital hepatic fibrosis (CHF), Caroli syndrome (CS), polycystic liver disease, oro-facial-digital syndrome, nephronophithisis (NPHP), and glomerulocystic Kidney Disease).\n\nThe lack of enough routinely available resources for these diseases to be well diagnosed and treated, would be best resolved by coordinated case accrual and sharing of clinical data and bio-specimens (DNA and tissues) among participating institutions, thereby leading to the centralization and sharing of clinical and genetic information, as well as bio-materials, providing an important engine for more rapid research progress and community understanding through the creation of research networks.\n\nThis study aims to build a registry of a clinical database (medical health information), a mutational database (genetic information) and an educational resource about HRFD to eventually provide information about these diseases to families, physicians and genetic counselors via our existing HIPAA- approved study website.\n\nGoals for the Core A: The Hepato\u002FRenal Fibrocystic Diseases Translational Resource are:\n\n1. \\- Clinical Database:\n\n   • Expand our comprehensive Clinical Database to include information from all patients who meet the inclusion criteria for hepato\u002Frenal fibrocystic diseases.\n2. \\- Mutational Database:\n\n   * Test children with ARPKD and other hepato\u002Frenal fibrocystic disease to identify genetic mutations, establish a DNA bank for patients with hepato\u002Frenal fibrocystic diseases and develop a Mutational Database. This Database will be capable of linking clinical and mutational information via a unique identifier in a searchable format to facilitate genetic research (e.g. genotype-phenotype correlations, new disease gene studies, and modifier gene studies), translational studies, and clinical trials.\n\n     3- Tissue Resource:\n   * Much of the research that is performed on diseases of the kidney, including recessive genetic diseases, requires human tissue from both affected as well as non-affected (controls) individuals. In this Core Resource, we are establishing an independent tissue resource which would supply investigators throughout North America with samples of hepato\u002Frenal fibrocystic disease affected tissues for studies of these disorders.\n\n     4- Educational Resource:\n   * Expand our multi-media, web-based resource to provide a reliable up-to-date, and comprehensive informational resource for ARPKD and Hepato\u002FRenal Diseases families, their physicians, and genetic counselors.",[25,26,27,28,29,30,31,32,33,34],"Hepato\u002FRenal Fibrocystic Disease","Autosomal Recessive Polycystic Kidney Disease","Joubert Syndrome","Bardet Biedl Syndrome","Meckel-Gruber Syndrome","Congenital Hepatic Fibrosis","Caroli Syndrome","Oro-Facial-Digital Syndrome Type I","Nephronophthisis","Glomerulocystic Kidney Disease",[36,37,38,39],"cystic kidney disease","polycystic kidney disease","congenital hepatic fibrosis","genetic disease","RECRUITING","2026-06-12",{"date":43,"type":44},"2026-06-15","ACTUAL",{"date":46,"type":4},"2011-06",{"date":48,"type":21},"2030-12",{"name":50,"class":51},"Children's Hospital of Philadelphia","OTHER",6,{"id":54,"slug":55,"hasResults":11,"nctId":56,"briefTitle":57,"officialTitle":58,"acronym":59,"eligibilityCriteria":60,"healthyVolunteers":11,"sex":61,"minAge":18,"maxAge":4,"enrollmentInfo":62,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":64,"conditions":65,"keywords":80,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":94,"lastUpdatePostDateStruct":95,"startDateStruct":97,"completionDateStruct":99,"leadSponsor":101,"locationsCount":103},"100527411","development-of-non-invasive-prenatal-diagnosis-for-single-gene-disorders-100527411","NCT06147414","Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","DANNIgene","Inclusion Criteria:\n\n* pregnant woman with 9 weeks of amenorrhea or more\n* singleton pregnancy\n* undergoing invasive PND in a context of family history of SGD involving the following genes : HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1, or undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK\n* germinal pathogenic paternal and\u002For maternal mutations previously identified\n* age 18 years old or over\n* signing an informed consent\n\nExclusion Criteria:\n\n* at risk of SGD involving a de novo pathogenic mutation in a previous child\n* woman under legal protection","FEMALE",{"count":63,"type":21},550,"Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting.\n\nThe present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.",[66,67,68,69,70,71,72,73,74,75,76,77,78,79,26],"Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including","Sickle Cell Disease","Cystic Fibrosis","Fragile X Syndrome","Proximal Spinal Muscular Atrophy","Myotonic Dystrophy","Muscular Dystrophy, Duchenne","Muscular Dystrophy, Becker","Neurofibromatosis-Noonan Syndrome","Huntington Disease","Hemophilia A","Hemophilia B","MODY2 Diabetes","X-Linked Hydrocephalus",[81,82,83,84,85,86,87,88,89,90,91,92,93],"Gene HBB","Gene CFTR","Gene FMR1","Gene SMN1","Gene DMPK","Gene DMD","Gene NF1","Gene HTT","Gene F8","Gene F9","Gene GCK","Gene L1CAM","Gene PKHD1","2026-04-20",{"date":96,"type":44},"2026-04-23",{"date":98,"type":44},"2024-10-23",{"date":100,"type":21},"2027-05",{"name":102,"class":51},"Assistance Publique - Hôpitaux de Paris",1,{"id":105,"slug":106,"hasResults":11,"nctId":107,"briefTitle":108,"officialTitle":108,"acronym":109,"eligibilityCriteria":110,"healthyVolunteers":111,"sex":17,"minAge":112,"maxAge":4,"enrollmentInfo":113,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":115,"conditions":116,"keywords":117,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":122,"lastUpdatePostDateStruct":123,"startDateStruct":125,"completionDateStruct":127,"leadSponsor":129,"locationsCount":131},"100608397","imaging-assessments-of-arpkd-kidney-disease-progression-100608397","NCT07201025","Imaging Assessments of ARPKD Kidney Disease Progression","IMAGE-ARPKD","Inclusion criteria:\n\nALL SUBJECTS\n\n* Ages \\>6 years old\n* Able to lay still for 30 minutes in an MRI scanner ARPKD Patients\n* Clinical and\u002For genetic diagnosis of ARPKD\n* eGFR (creatinine based) \\>30ml\u002Fmin\u002F1.732 performed within the last year Healthy Controls\n* Otherwise healthy with no known structural or functional kidney disease\n* No history of hypertension or documented high blood pressure within the last year\n\nExclusion criteria:\n\nALL SUBJECTS\n\n* Contraindications to MRI (e.g. metal implants)\n* Parental\u002Fpatient refusal to sign an informed consent\u002F assent form ARPKD Patients\n* Prior kidney or other solid organ transplant\n* eGFR \\\u003C30ml\u002Fmin\u002F1.732 Healthy Controls\n* Systemic diseases known to place patient at risk for kidney disease (e.g. diabetes mellitus)\n* Obesity (BMI \\>95th percentile for age for \\\u003C18 years old, or BMI\\>30 for adults)\n* History of prematurity (\\\u003C32 weeks gestational age)",true,"6 Years",{"count":114,"type":21},60,"Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a potentially lethal genetic disorder for which there are currently no disease specific treatments. Clinical trials have been limited by the absence of robust measures of disease progression. The overall goal of this 5 year NIH-funded prospective, observational multicenter study conducted at CC (primary site) and Children's Hospital of Philadelphia (CHOP) (collaborating site) is establish a set of rapid, quantitative, and reproducible novel kidney MRI measures applicable to standard clinical MRI scanners, which could serve as potential biomarkers to measure response to therapy in patients across the disease spectrum and all ages.\n\nThe investigators will recruit a total of 45 ARPKD patients and 15 healthy controls at the the two sites . All subjects will be \\> or = 6yrs old with no contraindications to undergoing MRI (non contrast). ARPKD subjects will be recruited into one of 3 cohorts based on their estimated glomerular filtration rate (eGFR): early CKD (eGFR\\> or =90ml\u002Fmin\u002F1.73m2), mild CKD (60-89ml\u002Fmin\u002F1.73m2) and moderate CKD (30-59ml\u002Fmin\u002F1.73m2). For ARPKD subjects, participation will last 3 years and consist of a baseline and 3 subsequent annual visits. Healthy controls will only have 1 study visit. Study visits for all participants will include collection of clinical and demographic data, clinical blood and urine tests (E.g. serum creatinine) and MRI imaging. ARPKD (but not healthy subjects) will also undergo a measured GFR test (iohexol clearance) to accurately assess their kidney function.",[26],[118,15,119,120,121],"MRI","Pediatric","Ciliopathy","Biomarker","2025-11-18",{"date":124,"type":44},"2025-11-21",{"date":126,"type":44},"2024-12-12",{"date":128,"type":21},"2029-02-28",{"name":130,"class":51},"The Cleveland Clinic",2,{"id":133,"slug":134,"hasResults":11,"nctId":135,"briefTitle":136,"officialTitle":137,"acronym":138,"eligibilityCriteria":139,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":140,"targetDuration":142,"studyType":22,"phases":4,"briefSummary":143,"conditions":144,"keywords":4,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":227,"lastUpdatePostDateStruct":228,"startDateStruct":230,"completionDateStruct":232,"leadSponsor":234,"locationsCount":103},"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":141,"type":21},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.",[145,146,147,148,149,150,151,152,153,154,26,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209,33,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226],"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","Bartter Syndrome","BK Nephropathy","C3 Glomerulopathy With Monoclonal Gammopathy","C3 Glomerulopathy","Calciphylaxis","Crystalglobulinaemia","Crystal-storing Histiocytosis","Cystinosis","Cystinuria","Dense Deposit Disease","Dent 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","Primary Hypomagnesemia With Secondary Hypocalcemia","Primary Hyperoxaluria","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":229,"type":44},"2023-10-04",{"date":231,"type":44},"2009-11-06",{"date":233,"type":21},"2039-12-31",{"name":235,"class":51},"UK Kidney Association"]