[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"nephronophthisis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:nephronophthisis":33},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,53,88],{"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":61,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":62,"targetDuration":4,"studyType":64,"phases":65,"briefSummary":67,"conditions":68,"keywords":74,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":78,"lastUpdatePostDateStruct":79,"startDateStruct":81,"completionDateStruct":83,"leadSponsor":85,"locationsCount":87},"100565889","research-of-therapeutic-targets-in-the-frame-of-nephronophthisis-and-renal-associated-ciliopathies-100565889","NCT06648044","Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies","Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies - NPH_1","NPH1","Inclusion Criteria:\n\n* In order to be included in the protocol, subjects will have to respect the following criteria:\n\nAffected patients:\n\nSuffering from nephronophthisis or renal associated ciliopathies with known genetic diagnosis or not, Having obtained the signature of the informed consent form of patient, parent(s) or legal representative No age limit is requested for these patients, who can be recruited from birth.\n\nHealthy relatives:\n\nBeing the healthy relative (father \u002F mother \u002F brother \u002F sister) of an included patient Having signed the informed consent form (patient or parent in case of minor subject) No age limit is requested for these subjects, who can be recruited from birth.\n\n'Negative' control patients: Being unscathed of any chronic renal disease, with or without ciliopathies Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth.\n\n'Positive' control patients Suffering from Chronic Kidney Disease unrelated to ciliary dysfunction (such as glomerulopathy, tubulopathy…) Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth.\n\nExclusion Criteria:\n\nIn order to be included in the protocol, subjects will have to fulfill none of the following criteria:\n\nAffected patients:\n\nPatients with a functioning kidney transplant (only for patient for who urine sample is performed. This criteria is not applicable when only blood is sampling) Patients included in a therapeutic protocol since fewer 30 days.\n\nHealthy relatives:\n\nNo no-inclusion criteria\n\n'Negative' control subjects: No no-inclusion criteria\n\n'Positive' control subjects: Patients with a functioning kidney transplant",true,{"count":63,"type":21},310,"INTERVENTIONAL",[66],"NA","Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).\n\nThese genetic defects are associated with reduced urine concentration, chronic tubulointerstitial nephritis, etc., and progress to end-stage renal failure before the age of 20.\n\nNephronophthisis may occur as an isolated pathology, but is also often associated with various extrarenal symptoms.\n\nNPHP genes account for around 50% of the genes responsible for NPH. No effective treatment is available to date.\n\nStudying NPHP proteins and associated signaling pathways could help identify how to circumvent the problems of protein distribution and therapeutic mRNA, and could be applicable to a broad set of NPHP mutations. To this end, Dr. Saunier's laboratory at Institut Imagine has recently identified approved drugs that correct some of the ciliary and epithelial defects found in cells with NPHP mutations.",[33,59,69,70,71,72,73],"Autosomal","Recessive","Genetically","Heterogenic","Disorder",[75,76,77],"mutations","20","genes","2025-08-29",{"date":80,"type":44},"2025-09-05",{"date":82,"type":44},"2016-02-01",{"date":84,"type":21},"2028-02-01",{"name":86,"class":51},"Imagine Institute",1,{"id":89,"slug":90,"hasResults":11,"nctId":91,"briefTitle":92,"officialTitle":93,"acronym":94,"eligibilityCriteria":95,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":96,"targetDuration":98,"studyType":22,"phases":4,"briefSummary":99,"conditions":100,"keywords":4,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":183,"lastUpdatePostDateStruct":184,"startDateStruct":186,"completionDateStruct":188,"leadSponsor":190,"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":97,"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.",[101,102,103,104,105,106,107,108,109,110,26,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,33,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182],"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":185,"type":44},"2023-10-04",{"date":187,"type":44},"2009-11-06",{"date":189,"type":21},"2039-12-31",{"name":191,"class":51},"UK Kidney Association"]