[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100575891":3},{"organization":4,"armGroups":7,"interventions":25,"overallOfficials":10,"centralContacts":35,"locations":44,"responsibleParty":60,"collaborators":10,"id":64,"slug":65,"hasResults":66,"nctId":67,"briefTitle":68,"officialTitle":68,"acronym":69,"eligibilityCriteria":70,"healthyVolunteers":66,"sex":71,"minAge":10,"maxAge":10,"enrollmentInfo":72,"targetDuration":10,"studyType":75,"phases":10,"briefSummary":76,"conditions":77,"keywords":79,"overallStatus":46,"whyStopped":10,"lastUpdateSubmitDate":84,"lastUpdatePostDateStruct":85,"startDateStruct":88,"completionDateStruct":90,"leadSponsor":92,"locationsCount":93},{"fullName":5,"class":6},"University Medical Center Groningen","OTHER",[8,14,18,22],{"label":9,"type":10,"description":11,"interventionNames":12},"FIC1-deficiency",null,"genetically proven deficiency of FIC1 (FIC1). Disease is also known as PFIC1.",[13],"Other: observational study",{"label":15,"type":10,"description":16,"interventionNames":17},"BSEP-deficiency","genetically proven deficiency of Bile Salt Export Pump (BSEP, ABCB11). Disease is also known as PFIC2.",[13],{"label":19,"type":10,"description":20,"interventionNames":21},"MDR3-deficiency","genetically proven deficiency of Multi Drug Resistance protein type 3 (MDR3, ABCB4). Disease is also known as PFIC3.",[13],{"label":23,"type":10,"description":24,"interventionNames":10},"Other genetic subtypes of Familiai Intrahepatic Cholestasis","TJP2 deficiency (TJP2), FXR deficiency (NR1H4), SLC51A deficiency (SLC51A), USP53 deficiency (USP53), KIF12 deficiency (KIF12), ZFYE19 deficiency (ZFYVE19), MYO5B deficiency (MYO5B), SEMA7A deficiency (SEMA7A), VPS33B deficiency, (VPS33B), PSKH1 deficiency (PSKH1)",[26],{"type":6,"name":27,"description":28,"armGroupLabels":29,"otherNames":30},"observational study","The interventions are not determined by the study, which is purely observational on \"real world data\".",[15,9,19],[31,32,33,34],"natural history","surgical biliary diversion","liver transplantation","IBAT-inhibition",[36,41],{"name":37,"role":38,"phone":39,"phoneExt":10,"email":40},"Henkjan J Verkade, MD, PhD, Professor","CONTACT","31-50-3614147","h.j.verkade@umcg.nl; pfic@bkk.umcg.nl",{"name":42,"role":38,"phone":39,"phoneExt":10,"email":43},"Willem S Lexmond, MD, PhD","w.s.lexmond@umcg.nl",[45],{"facility":5,"status":46,"city":47,"state":10,"zip":48,"country":49,"countryCode":50,"cosmosGeoPoint":51,"geoPoint":56,"contacts":57},"RECRUITING","Groningen","9700 RB","Netherlands","NL",{"type":52,"coordinates":53},"Point",[54,55],6.56667,53.21917,{"lat":55,"lon":54},[58,59],{"name":37,"role":38,"phone":39,"phoneExt":10,"email":40},{"name":42,"role":38,"phone":39,"phoneExt":10,"email":43},{"type":61,"investigatorFullName":62,"investigatorTitle":63,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"PRINCIPAL_INVESTIGATOR","Prof. Dr. Henkjan J. Verkade","Pediatric hepatologist, Professor of pediatrics","100575891","prospective-analysis-of-the-treatment-of-progressive-familial-intrahepatic-cholestasis-treatfic-100575891",false,"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.","ALL",{"count":73,"type":74},200,"ESTIMATED","OBSERVATIONAL","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.",[78],"Progressive Familial Intrahepatic Cholestasis",[80,81,82,83,33],"PFIC","ASBT","IBAT","biliary diversion","2025-01-21",{"date":86,"type":87},"2025-01-24","ACTUAL",{"date":89,"type":87},"2023-02-09",{"date":91,"type":74},"2033-12",{"name":5,"class":6},1]