[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100152520":3},{"organization":4,"armGroups":7,"interventions":18,"overallOfficials":23,"centralContacts":49,"locations":58,"responsibleParty":186,"collaborators":188,"id":196,"slug":197,"hasResults":198,"nctId":199,"briefTitle":200,"officialTitle":201,"acronym":202,"eligibilityCriteria":203,"healthyVolunteers":198,"sex":204,"minAge":10,"maxAge":10,"enrollmentInfo":205,"targetDuration":10,"studyType":208,"phases":10,"briefSummary":209,"conditions":210,"keywords":216,"overallStatus":61,"whyStopped":10,"lastUpdateSubmitDate":223,"lastUpdatePostDateStruct":224,"startDateStruct":227,"completionDateStruct":229,"leadSponsor":231,"locationsCount":232},{"fullName":5,"class":6},"Insel Gruppe AG, University Hospital Bern","OTHER",[8,14],{"label":9,"type":10,"description":11,"interventionNames":12},"1",null,"Patients with confirmed hereditary TTP due to congenital ADAMTS13 deficiency",[13],"Other: Observation",{"label":15,"type":10,"description":16,"interventionNames":17},"2","Family members of patients with confirmed hereditary TTP",[13],[19],{"type":6,"name":20,"description":21,"armGroupLabels":22,"otherNames":10},"Observation","No interventions planned: treatment of patients at the discretion of the treating\u002Fresponsible physician",[9,15],[24,28,31,34,37,40,43,46],{"name":25,"affiliation":26,"role":27},"Johanna A Kremer Hovinga, MD","University Clinic of Hematology and Central Hematology Laboratory, Bern University Hospital and the University of Bern, Inselspital","STUDY_CHAIR",{"name":29,"affiliation":30,"role":27},"Bernhard Lämmle, M.D.","University Medical Center, Center for Thrombosis and Hemostasis, Mainz, Germany",{"name":32,"affiliation":33,"role":27},"Yoshihiro Fujimura, M.D.","Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan",{"name":35,"affiliation":36,"role":27},"Ingrid Hrachovinova, Ph.D.","Institute of Hematology and Blood Transfusion, Coagulation Laboratory, Prague, Czech Republic",{"name":38,"affiliation":39,"role":27},"Petter Quist-Paulsen, M.D., Ph.D.","Department of Hematology, St Olavs Hospital, 7006 Trondheim, Norway",{"name":41,"affiliation":42,"role":27},"Reinhard Schneppenheim, M.D., Ph.D.","Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany",{"name":44,"affiliation":45,"role":27},"James N. George, MD","University of Oklahoma Health Sciences Center, Department of Medicine, United States of America",{"name":47,"affiliation":48,"role":27},"Paul N Knoebl, MD","Medical University of Vienna, Div. Hematology and Hemostasis, Austria",[50,54],{"name":25,"role":51,"phone":52,"phoneExt":10,"email":53},"CONTACT","+41 31 632 02 65","johanna.kremer@insel.ch",{"name":55,"role":51,"phone":56,"phoneExt":10,"email":57},"Marissa Schraner, Ph.D.","+41 31 632 56 90","marissa.schraner@insel.ch",[59,80,97,112,129,147,169],{"facility":60,"status":61,"city":62,"state":63,"zip":64,"country":65,"countryCode":66,"cosmosGeoPoint":67,"geoPoint":72,"contacts":73},"University of Oklahoma Health Sciences Center, Department of Medicine, PO Box 26901","RECRUITING","Oklahoma City","Oklahoma","73126-0901","United States","US",{"type":68,"coordinates":69},"Point",[70,71],-97.51643,35.46756,{"lat":71,"lon":70},[74,78],{"name":75,"role":51,"phone":76,"phoneExt":10,"email":77},"James N. George, M.D.","405-271-4222","james-george@ouhsc.edu",{"name":75,"role":79,"phone":10,"phoneExt":10,"email":10},"PRINCIPAL_INVESTIGATOR",{"facility":81,"status":61,"city":82,"state":10,"zip":83,"country":84,"countryCode":85,"cosmosGeoPoint":86,"geoPoint":90,"contacts":91},"Medical University of Vienna, Department of Medicine 1, Div. Hematology and Hemostasis Waehringer Guertel 18-20","Vienna","A-1090","Austria","AT",{"type":68,"coordinates":87},[88,89],16.37208,48.20849,{"lat":89,"lon":88},[92,96],{"name":93,"role":51,"phone":94,"phoneExt":10,"email":95},"Paul N. Knoebl, M.D.","+43 1 40400 4410","paul.knoebl@meduniwien.ac.at",{"name":93,"role":79,"phone":10,"phoneExt":10,"email":10},{"facility":98,"status":61,"city":99,"state":10,"zip":100,"country":101,"countryCode":10,"cosmosGeoPoint":102,"geoPoint":106,"contacts":107},"Institute of Hematology and Blood Transfusion, Coagulation Laboratory, U nemocnice 1","Prague","CZ-12820","Czechia",{"type":68,"coordinates":103},[104,105],14.42076,50.08804,{"lat":105,"lon":104},[108,111],{"name":35,"role":51,"phone":109,"phoneExt":10,"email":110},"+420 2 2197 271","Ingrid.Hrachovinova@uhkt.cz",{"name":35,"role":79,"phone":10,"phoneExt":10,"email":10},{"facility":113,"status":114,"city":115,"state":10,"zip":116,"country":117,"countryCode":118,"cosmosGeoPoint":119,"geoPoint":123,"contacts":124},"University Medical Center Hamburg-Eppendorf, Department of Pediatric Hematology and Oncology, Martinistr 52","NOT_YET_RECRUITING","Hamburg","D-20246","Germany","DE",{"type":68,"coordinates":120},[121,122],9.99302,53.55073,{"lat":122,"lon":121},[125,128],{"name":41,"role":51,"phone":126,"phoneExt":10,"email":127},"+49 40 7410 54270","schneppenheim@uke.de",{"name":41,"role":79,"phone":10,"phoneExt":10,"email":10},{"facility":130,"status":61,"city":131,"state":132,"zip":133,"country":134,"countryCode":135,"cosmosGeoPoint":136,"geoPoint":140,"contacts":141},"Nara Medical University, Department of Blood Transfusion Medicine, Shijyo-cho 840","Kashihara","Nara","634-8522","Japan","JP",{"type":68,"coordinates":137},[138,139],135.78333,33.95,{"lat":139,"lon":138},[142,146],{"name":32,"role":51,"phone":143,"phoneExt":144,"email":145},"+81 744 22 3051","3289","yoshifuji325@naramed-u.ac.jp",{"name":32,"role":79,"phone":10,"phoneExt":10,"email":10},{"facility":148,"status":61,"city":149,"state":10,"zip":150,"country":151,"countryCode":152,"cosmosGeoPoint":153,"geoPoint":157,"contacts":158},"Trondheim University St Olavs Hospital, Department of Hematology, PO Box 3250 Sluppen","Trondheim","NO-7006","Norway","NO",{"type":68,"coordinates":154},[155,156],10.39506,63.43049,{"lat":156,"lon":155},[159,162,165,167],{"name":38,"role":51,"phone":160,"phoneExt":10,"email":161},"+47 815 55 850","Petter.Quist-Paulsen@stolav.no",{"name":163,"role":51,"phone":160,"phoneExt":10,"email":164},"Anne-Sophie von Krogh, M.D.","Anne-Sophie.von.Krogh@stolav.no",{"name":166,"role":79,"phone":10,"phoneExt":10,"email":10},"Petter Quist-Paulsen, M.D.,Ph.D.",{"name":163,"role":168,"phone":10,"phoneExt":10,"email":10},"SUB_INVESTIGATOR",{"facility":26,"status":61,"city":170,"state":10,"zip":171,"country":172,"countryCode":173,"cosmosGeoPoint":174,"geoPoint":178,"contacts":179},"Bern","3010","Switzerland","CH",{"type":68,"coordinates":175},[176,177],7.44744,46.94809,{"lat":177,"lon":176},[180,181,185],{"name":25,"role":51,"phone":52,"phoneExt":10,"email":53},{"name":182,"role":51,"phone":183,"phoneExt":10,"email":184},"Isabella Aebi, BMA","+41 31 632 77 16","isabella.aebi-huber@insel.ch",{"name":25,"role":79,"phone":10,"phoneExt":10,"email":10},{"type":187,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[189,191,193],{"name":190,"class":6},"Swiss National Science Foundation",{"name":192,"class":6},"Mach Gaensslen Foundation",{"name":194,"class":195},"Baxalta Innovations GmbH, Wien, Austria","UNKNOWN","100152520","genotype-and-phenotype-correlation-in-hereditary-thrombotic-thrombocytopenic-purpura-upshaw-schulman-syndrome-100152520",false,"NCT01257269","Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)","Thrombotic Thrombocytopenic Purpura Registry - A Prospective Observational Study for Patients Suffering From Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)","TTP registry","Inclusion Criteria:\n\n* Severe ADAMTS13 deficiency ( ≤ 10% activity) and no ADAMTS 13 inhibitor on two or more occasions at least one month apart\n* Being a family member of a confirmed or suspected patient\n* Molecular analysis of ADAMTS13 gene with one or more mutations and\u002For positive infusion trial (full recovered ADAMTS13 activity after infused fresh frozen plasma (FFP) with a plasma half-life of 2-4 days)","ALL",{"count":206,"type":207},450,"ESTIMATED","OBSERVATIONAL","Hereditary thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) is a rare disorder characterized by thrombocytopenia as a result of platelet consumption, microangiopathic hemolytic anemia, occlusion of the microvasculature with von Willebrand factor-platelet-thrombic and ischemic end organ damage. The underlying patho-mechanism is a severe congenital ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motif, 13) deficiency which is the result of compound heterozygous or homozygous ADAMTS13 gene mutations.\n\nAlthough considered a monogenic disorder the clinical presentation in Upshaw-Schulman syndrome patients varies considerably without an apparent genotype-phenotype correlation. In 2006 we have initiated a registry for patients with Upshaw-Schulman syndrome and their family members to identify possible triggers of acute bouts of TTP, to document individual clinical courses and treatment requirements as well as possible side effects of long standing plasma substitution, e.g. alloantibody formation or viral infections.",[211,212,213,214,215],"Thrombotic Thrombocytopenic Purpura","Congenital Thrombotic Thrombocytopenic Purpura","Familial Thrombotic Thrombocytopenic Purpura","Thrombotic Thrombocytopenic Purpura, Congenital","Upshaw-Schulman Syndrome",[217,218,219,220,221,222],"Thrombotic thrombocytopenic purpura","ADAMTS13","Von Willebrand factor","Von Willebrand factor cleaving protease","Thrombocytopenia","Hemolytic anemia","2023-10-10",{"date":225,"type":226},"2023-10-11","ACTUAL",{"date":228,"type":10},"2006-10",{"date":230,"type":207},"2030-10",{"name":5,"class":6},7]