[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"progressive-familial-intrahepatic-cholestasis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:progressive-familial-intrahepatic-cholestasis":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,7,0,[8,39,57,92,120,141,166],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":4,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":27,"lastUpdatePostDateStruct":28,"startDateStruct":31,"completionDateStruct":33,"leadSponsor":35,"locationsCount":38},"100640181","a-study-of-the-effectiveness-safety-and-the-long-term-outcomes-of-participants-with-progressive-familial-intrahepatic-cholestasis-pfic-who-take-odevixibat-bylvay-in-china-100640181",false,"NCT07588880","A Study of the Effectiveness, Safety and the Long-term Outcomes of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Who Take Odevixibat (Bylvay) in China","Registry to Document Treatment Effectiveness, Safety, Including Prospective Long-term Outcomes in Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Who Take Odevixibat (Bylvay).","Inclusion Criteria:\n\n* Diagnosed with PFIC (all types) who have been prescribed odevixibat (independently of the decision to enroll the participant in this registry) by their treating physician\n* On (or starting) active odevixibat treatment (participants can remain in the registry during odevixibat treatment interruptions)\n* Signed informed consent and assent, as appropriate\n\nExclusion Criteria:\n\n* Currently participating in a clinical trial with odevixibat\n* Currently participating in any interventional clinical trial for PFIC\n* Have any contraindication to odevixibat as per the approved label in China","ALL","6 Months",{"count":19,"type":20},20,"ESTIMATED","5 Years","OBSERVATIONAL","This registry-based study will collect information from people with Progressive Familial Intrahepatic Cholestasis (PFIC) who take odevixibat (Bylvay) as part of routine clinical care in China.\n\nPFIC is a rare genetic liver disease that affects bile secretion and can cause bile acids to build up in the liver, which may lead to symptoms such as severe itching (pruritus).\n\nOdevixibat was first allowed to be used for PFIC in babies older than 6 months by the European Medicines Agency (EMA) on 16 July 2021 and by the United States Food and Drug Administration (FDA) on 20 July 2021 for itching in babies older than 3 months. Odevixibat is approved for the treatment of pruritus in PFIC and was approved in China on 01 December 2024 for patients 6 months of age and older with PFIC.\n\nThe main aim of this registry is to assess long-term real-world safety (based on adverse events) and to describe effectiveness outcomes.",[25],"Progressive Familial Intrahepatic Cholestasis","RECRUITING","2026-07-01",{"date":29,"type":30},"2026-07-02","ACTUAL",{"date":32,"type":30},"2026-04-16",{"date":34,"type":20},"2031-04-30",{"name":36,"class":37},"Ipsen","INDUSTRY",3,{"id":40,"slug":41,"hasResults":11,"nctId":42,"briefTitle":43,"officialTitle":44,"acronym":4,"eligibilityCriteria":45,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":46,"targetDuration":48,"studyType":22,"phases":4,"briefSummary":49,"conditions":50,"keywords":4,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":27,"lastUpdatePostDateStruct":51,"startDateStruct":52,"completionDateStruct":54,"leadSponsor":56,"locationsCount":38},"100607235","a-study-of-the-effectiveness-safety-and-the-long-term-outcomes-of-participants-with-progressive-familial-intrahepatic-cholestasis-pfic-who-take-odevixibat-bylvay-in-south-korea-100607235","NCT07185919","A Study of the Effectiveness, Safety and the Long-term Outcomes of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Who Take Odevixibat (Bylvay) in South Korea","Registry to Document Treatment Effectiveness, Safety, Including Prospective Long-term Outcomes in Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Who Take Odevixibat (Bylvay)","Inclusion criteria:\n\n1. Diagnosed with PFIC (all types) who have been prescribed odevixibat (independently of the decision to enrol the participant in this registry) by their treating physician\n2. On (or starting) active odevixibat treatment Note: Participants can remain in the registry during odevixibat treatment interruptions\n\nExclusion criteria:\n\n1. Currently participating in a clinical trial with odevixibat\n2. Currently participating in any interventional clinical trial for PFIC\n3. Have any contraindication to odevixibat as per the approved label in South Korea.",{"count":47,"type":20},10,"7 Years","This study will collect information from people with Progressive Familial Intrahepatic Cholestasis (PFIC) as they use odevixibat in their daily lives. Odevixibat is a medicine that helps people with PFIC, a type of rare disease that makes their liver not work well and causes itching and yellow skin. Odevixibat was first allowed to be used for PFIC in babies older than 6 months by the European Medicines Agency (EMA) on 16 July 2021 and by the United States Food and Drug Administration (FDA) on 20 July 2021 for itching in babies older than 3 months. Obevixibat was approved by the Ministry of Food and Drug Safety (MFDS) in South Korea on 23 August 2024.\n\nThis study will collect information to see how well and how safe odevixibat is in the long run for participants in South Korea.",[25],{"date":29,"type":30},{"date":53,"type":30},"2025-10-30",{"date":55,"type":20},"2032-09-30",{"name":36,"class":37},{"id":58,"slug":59,"hasResults":11,"nctId":60,"briefTitle":61,"officialTitle":61,"acronym":4,"eligibilityCriteria":62,"healthyVolunteers":11,"sex":16,"minAge":63,"maxAge":4,"enrollmentInfo":64,"targetDuration":4,"studyType":66,"phases":67,"briefSummary":69,"conditions":70,"keywords":72,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":85,"completionDateStruct":87,"leadSponsor":89,"locationsCount":91},"100615257","phase-4-long-term-low-intervention-safety-and-clinical-outcomes-clinical-study-of-livmarli-in-patients-with-alagille-syndrome-or-progressive-familial-intrahepatic-cholestasis-in-the-european-union-leap-eu-100615257","NCT07290257","Long-Term Low-Intervention SafEty and Clinical Outcomes Clinical Study of LivmArli® in Patients With Alagille Syndrome or Progressive Familial Intrahepatic Cholestasis in the European Union (LEAP-EU)","Inclusion Criteria:\n\n* Understand and execute an Informed consent and assent (as applicable)\n* For participants with ALGS ≥2 months of age at Day 1\n* For participants with PFIC, ≥3 months of age at Day 1\n* A clinically and\u002For genetically confirmed ALGS diagnosis with pruritus secondary to chronic cholestasis, or a clinically and\u002For genetically confirmed PFIC diagnosis\n* For the ALGS primary cohort: Initiation of Livmarli at the time of study entry\n* For the ALGS supplemental cohort, : Actively using Livmarli prior to study entry\n* For participants with PFIC: Prescribed Livmarli at the time of study entry or prior to study entry\n\nExclusion Criteria:\n\n* History of Liver Transplant\n* Any Livmarli contraindications (as per SmPC)\n* Any condition or abnormality that, in the opinion of the investigator, may interfere with the participation in or completion of the study\n* Received an investigational drug within 30 days before the first dose of Livmarli (Participation in previous maralixibat studies or expanded-access programs is acceptable.)\n* Received another IBAT inhibitor within 7 days before the first dose of Livmarli\n* Baseline data before start of treatment of Livmarli are unavailable (\\\u003C2 values before treatment) for key safety (LFTs, FSV laboratory results) and key efficacy (sBA, pruritus) parameter","2 Months",{"count":65,"type":20},230,"INTERVENTIONAL",[68],"PHASE4","In patients with Alagille syndrome (ALGS), the key objectives are to evaluate the tolerability, long-term safety (including possible liver toxicity) and long-term efficacy of Livmarli treatment.\n\nIn patients with Progressive Familial Intrahepatic Cholestasis (PFIC), the key objectives are to evaluate tolerability, long-term safety (including possible liver toxicity and potential impact of chronic exposure to propylene glycol (PG)), long-term efficacy, and growth and development.",[71,25],"Alagille Syndrome",[73,74,71,75,76,77,78,79,80,81],"ALGS","Liver Diseases","Livmarli","Maralixibat","Cholestasis","Pruritus","Itching","IBAT inhibitor","PFIC","2026-06-18",{"date":84,"type":30},"2026-06-23",{"date":86,"type":30},"2025-09-25",{"date":88,"type":20},"2030-12-22",{"name":90,"class":37},"Mirum Pharmaceuticals, Inc.",15,{"id":93,"slug":94,"hasResults":11,"nctId":95,"briefTitle":96,"officialTitle":96,"acronym":97,"eligibilityCriteria":98,"healthyVolunteers":99,"sex":16,"minAge":100,"maxAge":101,"enrollmentInfo":102,"targetDuration":4,"studyType":66,"phases":104,"briefSummary":106,"conditions":107,"keywords":4,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":109,"lastUpdatePostDateStruct":110,"startDateStruct":112,"completionDateStruct":114,"leadSponsor":116,"locationsCount":119},"100617328","defining-the-genetic-drivers-of-adult-onset-cholestatic-liver-disease-100617328","NCT07317193","DEFINING THE GENETIC DRIVERS OF ADULT-ONSET CHOLESTATIC LIVER DISEASE","FIRST","Inclusion Criteria:\n\nCases:\n\n* Adults, aged \\> 18 years with:\n\n  1. persistent or intermittent elevations in serum alkaline phosphatase (ALP) or gamma-glutamyltransferase (GGT) for at least six months not explained following standard diagnostic assessment adhering to the guidelines of the European Association for the Study of the Liver (EASL), or with a positive family history of unexplained cholestasis or hepato-biliary cancer, negative to previous genetic tests (targeted panel for PFIC genes or WES);\n  2. primary sclerosing cholangitis (PSC) with unusual features: small-duct PSC, non-typical radiological findings according to radiological guidelines on PSC, absence of concomitant inflammatory bowel disease, negative to previous genetic tests (targeted panel for PFIC genes or WES) or who didn't perform previous genetic test;\n  3. primary biliary cholangitis (PBC) without specific anti-mitochondrial antibodies, negative to previous genetic tests (targeted panel for PFIC genes or WES) or who didn't perform previous genetic test.\n* Signature of informed consent\n\nControls:\n\n-Blood donors (age 18-65 years) without clinical signs of liver diseases based on the collected clinical parameters: anthropometric (BMI\\>18 and \\\u003C25), haematological (Hb, white blood cells, platelets within the reference range), biochemical traits (albumin, bilirubin, AST, ALT, GGT, ALP within the reference range), medical history (negative for chronic or concomitant diseases, including immunological diseases)\n\nExclusion Criteria:\n\nCases:\n\n* Patients who do not possess the above inclusion criteria or have at least one of the following exclusion criteria:\n* an already known genetic diagnosis explaining the clinical phenotype\n* affected by other causes of liver disease such as viral or autoimmune hepatitis\n\nControls:\n\n-Blood donors with clinical signs of liver diseases",true,"18 Years","65 Years",{"count":103,"type":20},60,[105],"NA","Cholestatic disease in adults comprises a heterogeneous group of conditions characterized by intra- or extrahepatic alterations of bile flow that can lead to fibrosis or hepatic decompensation. Due to the heterogeneity of clinical manifestation, which is sometimes very subtle, diagnosis based on clinical, histological, and radiological evaluation is often very complicated. Genetic testing can be helpful in identifying the cause of the clinical phenotype, thereby allowing for targeted follow-up adequate to the patient's specific characteristics and risk factors. Although the utility of genetic analysis has been well documented for other liver diseases or in pediatric cohorts of children with cholestatic disease, the use and benefits of genetic testing in adults with cholestatic disease are still little explored and investigated. In this context, through the use of whole-genome sequencing (WGS), the FIRST project aims to evaluate the role of rare genetic variants in the pathogenesis of cholestatic disease and the utility of WGS in defining a genetic diagnosis.",[108,25],"Cholestatic Liver Disease","2026-03-23",{"date":111,"type":30},"2026-03-27",{"date":113,"type":30},"2025-11-01",{"date":115,"type":20},"2026-10-31",{"name":117,"class":118},"Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico","OTHER",1,{"id":121,"slug":122,"hasResults":11,"nctId":123,"briefTitle":124,"officialTitle":124,"acronym":125,"eligibilityCriteria":126,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":127,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":129,"conditions":130,"keywords":131,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":132,"lastUpdatePostDateStruct":133,"startDateStruct":135,"completionDateStruct":137,"leadSponsor":139,"locationsCount":140},"100530987","long-term-safety-and-clinical-outcomes-of-livmarli-in-patients-in-the-united-states-leap-us-100530987","NCT06193928","Long-Term SafEty and Clinical Outcomes of LivmArli in Patients in the United States (LEAP-US)","LEAP","Inclusion Criteria:\n\n* A clinically and\u002For genetically confirmed ALGS diagnosis or PFIC diagnosis\n* Participant prescribed Livmarli\n\nExclusion Criteria:\n\n* Refusal to provide informed consent\u002Fassent (if required by the local IRB)\n* Previously or currently on Livmarli through participation in a clinical study or expanded access program\n* Participants who have previously received an SBD or LT\n* Any condition or abnormalities that, in the opinion of the investigator, may interfere with the participant participating in or completing the study\n* Participants who have received an investigational drug within 30 days of the first dose of Livmarli",{"count":128,"type":20},70,"The objective of this 5-year, prospective, observational cohort study is to evaluate the long-term safety and clinical outcomes of patients with Alagille syndrome (ALGS) or Progressive familial intrahepatic cholestasis (PFIC) treated with Livmarli.",[71,25],[73,74,81,75,71,25],"2025-05-21",{"date":134,"type":30},"2025-05-25",{"date":136,"type":30},"2023-09-21",{"date":138,"type":20},"2030-09-20",{"name":90,"class":37},8,{"id":142,"slug":143,"hasResults":11,"nctId":144,"briefTitle":145,"officialTitle":145,"acronym":146,"eligibilityCriteria":147,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":148,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":150,"conditions":151,"keywords":152,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":157,"lastUpdatePostDateStruct":158,"startDateStruct":160,"completionDateStruct":162,"leadSponsor":164,"locationsCount":119},"100575891","prospective-analysis-of-the-treatment-of-progressive-familial-intrahepatic-cholestasis-treatfic-100575891","NCT06778174","Prospective Analysis of the Treatment of Progressive Familial Intrahepatic Cholestasis (TreatFIC)","TreatFIC","Inclusion Criteria:\n\n\\- Genetically confirmed cases of a PFIC type disease: FIC1 deficiency, BSEP deficiency, MDR3 deficiency, TJP2 deficiency, FXR deficiency, SLC51A deficiency, USP53 deficiency, KIF12 deficiency, ZFYE19 deficiency, MYO5B deficiency, SEMA7A deficiency, VPS33B deficiency, PSKH1 deficiency.\n\nExclusion Criteria:\n\n\\- Cases with suspected PFIC type disease, but without genetic testing data available.",{"count":149,"type":20},200,"The project has the following general aims:\n\n1. Natural course and prognosis: To prospectively follow the natural course and prognosis of the different types of PFIC, to broaden the understanding of the different very rare diseases and to allow predictions about the course of disease in different types of PFIC.\n2. Efficacy: To define the course of disease in FIC patients and identify associations with different treatments (symptomatic treatments, interruption of the enterohepatic circulation by surgical or medical means and other therapies such as corrector\u002Fpotentiator or exon skipping therapy. The course of disease will be characterized by biochemical, clinical and surgical parameters, including liver transplantation.\n3. Safety: To define the complications associated with the different treatments (symptomatic treatments, interruption of the enterohepatic circulation by surgical or medical means and other therapies such as corrector\u002Fpotentiator or exon skipping therapy, liver transplantation). Follow up will be as long as possible.\n4. (Surrogate) biomarker response: Biochemical parameters will be longitudinally collected and associated with changes in treatments \u002F course of disease.\n5. Genotype-phenotype relationships: If patient numbers permit, to establish genotype-phenotype relationships for (non)responsiveness towards different treatments in patients with genetic mutations causing the different forms of FIC disease.",[25],[81,153,154,155,156],"ASBT","IBAT","biliary diversion","liver transplantation","2025-01-21",{"date":159,"type":30},"2025-01-24",{"date":161,"type":30},"2023-02-09",{"date":163,"type":20},"2033-12",{"name":165,"class":118},"University Medical Center Groningen",{"id":167,"slug":168,"hasResults":11,"nctId":169,"briefTitle":170,"officialTitle":171,"acronym":4,"eligibilityCriteria":172,"healthyVolunteers":11,"sex":16,"minAge":100,"maxAge":4,"enrollmentInfo":173,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":175,"conditions":176,"keywords":4,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":179,"lastUpdatePostDateStruct":180,"startDateStruct":182,"completionDateStruct":184,"leadSponsor":186,"locationsCount":188},"100576126","genotype-phenotype-relationship-between-cryptogenic-cholestasis-and-familial-intrahepatic-cholestasis-100576126","NCT06781242","Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis","Genotype-phenotype Relationship Between Adult Cryptogenic Cholestasis and Mutations in Genes Responsible for Progressive Familial Intrahepatic Cholestasis","Inclusion Criteria:\n\n* age ≥ 18 years\n* diagnosis of PFIC\u002FCCLDs\u002FHBCs\n* obtaining informed consent\n\nExclusion Criteria:\n\n* Another documented cause of chronic liver disease capable of justifying the clinical phenotype",{"count":174,"type":20},300,"Genotype-phenotype relationship between adult cryptogenic cholestasis and mutations in genes responsible for progressive familial intrahepatic cholestasis",[108,177,25,178],"Intrahepatic Cholestasis","Hepatobiliary Cancer","2025-01-13",{"date":181,"type":30},"2025-01-17",{"date":183,"type":30},"2024-01-16",{"date":185,"type":20},"2025-09",{"name":187,"class":118},"IRCCS Azienda Ospedaliero-Universitaria di Bologna",2]