[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"congenital-hepatic-fibrosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:congenital-hepatic-fibrosis":30},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,53],{"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":57,"acronym":4,"eligibilityCriteria":58,"healthyVolunteers":11,"sex":17,"minAge":59,"maxAge":60,"enrollmentInfo":61,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":63,"conditions":64,"keywords":69,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":76,"lastUpdatePostDateStruct":77,"startDateStruct":79,"completionDateStruct":81,"leadSponsor":83,"locationsCount":86},"100241172","natural-history-of-noncirrhotic-portal-hypertension-100241172","NCT02417740","Natural History of Noncirrhotic Portal Hypertension","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n* Male or female, aged \\>= 18 years of age, and minors 12-17 years of age.\n* Women of childbearing potential must agree to use birth control unless they are menopausal or had hysterectomy.\n* Known diagnosis of NCPH, or to be at the risk for NCPH by virtue of underlying disease processes such as but not limited to; CGD, SCD, Mastocytosis, CVID, CF, and CHF.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Pregnancy.\n* Evidence of other forms of liver disease that typically result in cirrhosis.\n* Evidence of active Chronic Hepatitis B infection as defined by the presence of hepatitis B surface antigen (HBsAg) in serum and elevated HBV DNA (\\>10,000 IU\u002FmL).\n* Hepatitis C as defined by the presence of hepatitis C RNA in serum.\n* Evidence of other liver disease such as primary sclerosing cholangitis, primary biliary cirrhosis, Wilson s disease, autoimmune hepatitis as defined by either liver histology or laboratory abnormalities.\n* Hemochromatosis as defined by presence of 3+ or 4+ stainable iron on liver biopsy or homozygosity for C282Y. Patients with iron saturation indices of \\>45% and serum ferritin levels of \\>300 ng\u002Fml for men and \\>250 ng\u002Fml for women will undergo genetic testing for hemochromatosis.\n* Bile duct obstruction as suggested by imaging studies done within the previous six months.\n* The presence of cirrhosis confirmed by liver biopsy.\n* Active substance abuse, such as alcohol, inhaled or injection drugs within the previous one year (assessed during subject interviews by subject self-report).\n* Evidence of hepatocellular carcinoma; either alpha-fetoprotein (AFP) levels greater than 50 ng\u002Fml (normal \\\u003C6.6ng\u002Fml) and\u002For ultrasound (or other imaging study) demonstrating a mass suggestive of liver cancer.\n* Evidence of cholangiocarcinoma as suggested by liver histology.\n* Any other severe condition, which in the opinion of the investigators would impede the patient s participation or compliance in the study.\n* Inability to comply or give written informed consent.","12 Years","100 Years",{"count":62,"type":21},400,"Background:\n\n\\- Noncirrhotic Portal Hypertension (NCPH) is caused by liver diseases that increase pressure in the blood vessels of the liver. It seems to start slowly and not have many warning signs. Many people may not even know that they have a liver disease. There are no specific treatments for NCPH.\n\nObjectives:\n\n\\- To learn more about how NCPH develops over time.\n\nEligibility:\n\n\\- People age 12 and older who have NCPH or are at risk for getting it. In the past year, they cannot have had other types of liver disease that typically result in cirrhosis, liver cancer, or active substance abuse.\n\nDesign:\n\n* Participants will have 2 screening visits.\n* Visit 1: to see if they have or may develop NCPH.\n* Medical history\n* Physical exam\n* Urine and stool studies\n* Abdominal ultrasound\n* Fibroscan. Sound waves measure liver stiffness.\n\n\\\u003CTAB\\>- Visit 2:\n\n* Blood tests\n* Abdominal MRI\n* Echocardiogram\n* Questionnaire\n* Liver blood vessel pressure (hepatic venous portal gradient (HVPG)) measurement. This is done with a small tube inserted in a neck vein.\n* They may have a liver biopsy.\n* All participants will visit the clinic every 6 months for a history, physical exam, and blood tests. They will also repeat some of the screening tests yearly.\n* Participants with NCPH will also have:\n* Upper endoscopy test. A tube inserted in the mouth goes through the esophagus and stomach.\n* At least every 2 years: Esophagogastroduodenoscopy.\n* At least every 4 years: testing including HVPG measurements and liver biopsy.\n* Participants without NCPH will also have:\n* Liver biopsy and HVPG measurements to see if they have NCPH.\n* Every 2 years: abdominal MRI and stool studies.\n* The study will last indefinitely.",[65,66,67,30,68],"Cystic Fibrosis","Immunologic Deficiency Syndrome","Turner Syndrome","Idiopathic Non-Cirrhotic Portal Hypertension",[70,71,72,73,74,75],"Portal Hypertension","Portal Fibrosis","Liver Disease","Varices","Splenomegaly","Natural History","2026-05-29",{"date":78,"type":44},"2026-06-01",{"date":80,"type":44},"2015-07-27",{"date":82,"type":21},"2029-09-04",{"name":84,"class":85},"National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)","NIH",1]