[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100503312":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":10,"centralContacts":15,"locations":22,"responsibleParty":55,"collaborators":57,"id":59,"slug":60,"hasResults":61,"nctId":62,"briefTitle":63,"officialTitle":64,"acronym":65,"eligibilityCriteria":66,"healthyVolunteers":61,"sex":67,"minAge":68,"maxAge":10,"enrollmentInfo":69,"targetDuration":10,"studyType":72,"phases":10,"briefSummary":73,"conditions":74,"keywords":10,"overallStatus":76,"whyStopped":10,"lastUpdateSubmitDate":77,"lastUpdatePostDateStruct":78,"startDateStruct":81,"completionDateStruct":83,"leadSponsor":85,"locationsCount":86},{"fullName":5,"class":6},"Hospital Universitari Vall d'Hebron Research Institute","OTHER",[8,12],{"label":9,"type":10,"description":11,"interventionNames":10},"Symptomatic patients",null,"Adult patients (≥ 18 years old) with hereditary angioedema with C1INH deficiency (HAE-C1INH) from different regions of Spain will be included. Patients included in the study will be divided into two groups: a) symptomatic, which will be those who present symptoms compatible with HAE-C1INH and who have a confirmed diagnosis",{"label":13,"type":10,"description":14,"interventionNames":10},"Asymptomatic patients","Asymptomatic patients, which will be those with a C1INH deficiency and who have not developed symptoms of HAE. Asymptomatic patients must be at least 22 years old and meet the same criteria than those symptomatic, except for the presence of symptoms consistent with HAE-C1INH",[16],{"name":17,"role":18,"phone":19,"phoneExt":20,"email":21},"Roger Colobran, PhD","CONTACT","+34 93 489 30 00","6983","roger.colobran@vallhebron.cat",[23,41],{"facility":24,"status":10,"city":25,"state":10,"zip":26,"country":27,"countryCode":28,"cosmosGeoPoint":29,"geoPoint":34,"contacts":35},"Hospital Universitari Vall d'Hebron","Barcelona","08035","Spain","ES",{"type":30,"coordinates":31},"Point",[32,33],2.15899,41.38879,{"lat":33,"lon":32},[36,38],{"name":17,"role":18,"phone":37,"phoneExt":20,"email":21},"+34934893000",{"name":39,"role":40,"phone":10,"phoneExt":10,"email":10},"Mar Guilarte, MD","SUB_INVESTIGATOR",{"facility":42,"status":10,"city":43,"state":10,"zip":44,"country":27,"countryCode":28,"cosmosGeoPoint":45,"geoPoint":49,"contacts":50},"Hospital Universitario La Paz","Madrid","28041",{"type":30,"coordinates":46},[47,48],-3.70256,40.4165,{"lat":48,"lon":47},[51,53],{"name":52,"role":18,"phone":10,"phoneExt":10,"email":10},"Alberto López Lera, PhD",{"name":54,"role":40,"phone":10,"phoneExt":10,"email":10},"Teresa Caballero, MD, PhD",{"type":56,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[58],{"name":42,"class":6},"100503312","identification-and-characterization-of-genetic-variants-in-hereditary-angioedema-100503312",false,"NCT05833620","Identification and Characterization of Genetic Variants in Hereditary Angioedema","Identification and Functional Characterization of Genetic Variants Associated With Specific Clinical Phenotypes in Hereditary Angioedema Due to C1 Inhibitor Deficiency: An Unbiased Approach","GENOMAEH_01","Inclusion Criteria:\n\n* Adult patients (≥ 18 years old) with HAE-C1INH diagnosis (confirmed by mutation in SERPING1 gen or immunochemical study showing a decrease in C1INH function \\\u003C50% in two determinations together with a family history (symptomatic patients' group)\n* Patients ≥ 22 years old with C1INH hereditary deficiency (confirmed by mutation of SERPING1 gene or immunochemical study showing a decrease in C1INH function \\\u003C50% in two determinations together with a family history) and who have not developed symptoms consistent with HAE-C1INH\n* Signed informed consent.\n\nExclusion Criteria:\n\n* No confirmed C1INH deficiency.\n* Inability to sign the informed consent.\n* Presence of recurrent angioedema with histaminergic characteristics (response to treatment with antihistamines, glucocorticoids and\u002For epinephrine)","ALL","18 Years",{"count":70,"type":71},200,"ESTIMATED","OBSERVATIONAL","This project aims to analyse in an unbiased way the existence of genetic variants that contribute to explaining and predicting the differences in clinical expression between patients with HAE.",[75],"Hereditary Angioedema With C1 Esterase Inhibitor Deficiency","NOT_YET_RECRUITING","2023-04-17",{"date":79,"type":80},"2023-04-27","ACTUAL",{"date":82,"type":71},"2023-05",{"date":84,"type":71},"2027-03-31",{"name":5,"class":6},2]