[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"pfic---progressive-familial-intrahepatic-cholestasis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:pfic---progressive-familial-intrahepatic-cholestasis":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,41],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":26,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"100607680","a-study-to-assess-the-genetic-variations-in-bile-flow-disorders-linking-progressive-familial-intrahepatic-cholestasis-pfic-related-genes-to-symptoms-in-adults-with-recurrent-cholestasis-in-spain-100607680",false,"NCT07191704","A Study to Assess the Genetic Variations in Bile Flow Disorders: Linking Progressive Familial Intrahepatic Cholestasis (PFIC)-Related Genes to Symptoms in Adults With Recurrent Cholestasis in Spain","Characterization of Progressive Familial Intrahepatic Cholestasis (PFIC)-Related Genes in Adult Patients With Idiopathic Recurrent and Chronic Cholestasis in Spain - REGENIC","REGENIC","Inclusion Criteria:\n\n* Adult patients (≥18 years old) with written informed consent prior to data collection and study procedures.\n* Unexplained recurrent and\u002For chronic cholestasis (idiopathic cholestasis), defined as alkaline phosphatase (ALP) or Gamma-Glutamyl Transferase (GGT) \\> Upper Limit of Normal (ULN).\n* Patients who provide the blood sample for the genetic analysis.\n\nExclusion Criteria:\n\n* Patients with clear and confirmed diagnosed causes of cholestasis, including:\n\n  * Primary Biliary Cholangitis\n  * Primary or Secondary Sclerosing Cholangitis\n  * Obstruction of the bile ducts\n  * Other Liver diseases: cholestasis secondary to hepatocellular injury, viral hepatitis (mainly Hepatitis A virus \\[HAV\\], Hepatitis B virus \\[HBV\\] and Hepatitis C virus \\[HCV\\]), toxic hepatitis (pharmacological; drug-induced liver injury \\[DILI\\]), autoimmune hepatitis; intestinal failure, total parenteral nutrition \\[TPN\\]; Wilson's disease, choledochal cyst, Caroli Syndrome, and thick bile due to haemolysis.","ALL","18 Years",{"count":20,"type":21},150,"ESTIMATED","OBSERVATIONAL","Progressive Familial Intrahepatic Cholestasis (PFIC) is a group of inherited conditions that affect how bile moves in the liver, which can lead to serious liver problems. Doctors usually recommend genetic testing for patients with unexplained bile issues-after ruling out more common causes-to better understand the problem. However, there isn't much information on how common these genetic changes are in adults with these liver issues, especially in Spain. This study will observe these genetic changes so that doctors can diagnose the condition more clearly and create personalized treatment plans.\n\nThis study will be conducted in several centers across Spain for 10 months. Each adult participant will take part in a single-day visit where their health information will be collected, and a blood sample will be taken for both routine tests and genetic analysis.",[25],"PFIC - Progressive Familial Intrahepatic Cholestasis",[27],"Cholestasis","RECRUITING","2026-07-01",{"date":31,"type":32},"2026-07-02","ACTUAL",{"date":34,"type":32},"2025-12-08",{"date":36,"type":21},"2026-07-31",{"name":38,"class":39},"Ipsen","INDUSTRY",10,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":46,"acronym":47,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":18,"enrollmentInfo":49,"targetDuration":51,"studyType":22,"phases":4,"briefSummary":52,"conditions":53,"keywords":56,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":71},"100624598","pediatric-evaluation-and-registry-for-liver-cholestasis-in-canada-100624598","NCT07411716","Pediatric Evaluation and Registry for Liver Cholestasis in Canada","PEARL - Pediatric Evaluation and Registry for Liver Cholestasis in Canada","PEARL","Inclusion Criteria:\n\n* Pediatric participants (\\\u003C18 years old) with genetically confirmed or clinically diagnosed ALGS or any of the various subtypes of GIC, each associated with a distinct genetic mutation:\n\nA. PFIC Type 1 (FIC1 Deficiency) - Mutation in ATP8B1 gene. B. PFIC Type 2 (BSEP Deficiency) - Mutation in ABCB11 gene. C. PFIC Type 3 (MDR3 Deficiency) - Mutation in ABCB4 gene. D. PFIC Type 4 (TJP2 Deficiency) - Mutation in TJP2 gene. E. PFIC Type 5 (FXR Deficiency) - Mutation in NR1H4 gene. F. PFIC Type 6 (MYO5B-Associated) - Mutation in MYO5B gene. G. Progressive cholestasis of northwestern Quebec (PCNQ)-Mutation in UTP4 gene. Other novel PFIC-like conditions continue to be identified and may be included in the registry. If additional conditions are identified for inclusion in the registry, a protocol amendment will be submitted for REB approval.\n\n* Enrollment within Canadian pediatric liver centers participating in the registry. These include: Children's Hospital of Eastern Ontario (Ottawa, ON, Lead Site), CHU Sainte-Justine (Montreal, QC), McMaster Children's Hospital (Hamilton, ON), Montreal Children's Hospital (Montreal, QC), Alberta Children's Hospital (Calgary, AB), Stollery Children's Hospital (Edmonton, AB), Janeway Children's Health and Rehabilitation Centre (St. John's, NL), Jim Pattison Children's Hospital (Saskatoon, SK), Children's Hospital LHSC (London, ON), Children's Hospital IWK Health Centre (Halifax, NS), BC Children's Hospital (Vancouver, BC), HSC Winnipeg Children's Hospital (Winnipeg, MB), Hôpital de l'Enfant-Jésus (Quebec City, QC)\n* Written informed consent obtained from participant if they have the capacity, or parents\u002Fguardians, and assent from participants as appropriate.\n\nExclusion Criteria:\n\n* Inability to comply with follow-up requirements (lost to follow-up)",{"count":50,"type":21},220,"6 Years","The purpose of this study is to create a national, multi-centre registry for children with Alagille syndrome (ALGS) and Genetic Intrahepatic Cholestasis (GIC) that follows participants long-term, ensuring standardized, high-quality data capture across all participating pediatric hepatology centres.\n\nInclusion criteria:\n\n• Pediatric participants (\\\u003C18 years old) with genetically confirmed or clinically diagnosed ALGS or any of the various subtypes of GIC, each associated with a distinct genetic mutation: A. PFIC Type 1 (FIC1 Deficiency) - Mutation in ATP8B1 gene. B. PFIC Type 2 (BSEP Deficiency) - Mutation in ABCB11 gene. C. PFIC Type 3 (MDR3 Deficiency) - Mutation in ABCB4 gene. D. PFIC Type 4 (TJP2 Deficiency) - Mutation in TJP2 gene. E. PFIC Type 5 (FXR Deficiency) - Mutation in NR1H4 gene. F. PFIC Type 6 (MYO5B-Associated) - Mutation in MYO5B gene. G. Progressive cholestasis of northwestern Quebec (PCNQ)-Mutation in UTP4 gene.\n\n* Enrollment within Canadian pediatric liver centers participating in the registry.\n* Written informed consent obtained from participant if they have the capacity, or parents\u002Fguardians, and assent from participants as appropriate.\n\nExclusion criteria:\n\n• Inability to comply with follow-up requirements (lost to follow-up). Participants will be recruited from our hepatology clinics retrospectively (diagnosed on or after January 1, 2022) and prospectively (newly diagnosed). Written consent\u002Fassent will be obtained from all participants prior to data collection from the participants' medical chart.",[25,54,55],"Alagille Syndrome (ALGS)","Cholestasis, Intrahepatic",[57,58,59,60],"cholestasis","GIC","ALGS","PFIC","2026-04-28",{"date":63,"type":32},"2026-05-04",{"date":65,"type":32},"2026-04-21",{"date":67,"type":21},"2031-12",{"name":69,"class":70},"Children's Hospital of Eastern Ontario","OTHER",13]