[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100656393":3},{"organization":4,"outcomesModule":7,"designInfo":14,"detailedDescription":21,"studyPopulation":13,"armGroups":22,"interventions":28,"overallOfficials":13,"centralContacts":33,"locations":40,"responsibleParty":58,"collaborators":61,"id":66,"slug":67,"hasResults":68,"nctId":69,"briefTitle":70,"officialTitle":70,"acronym":13,"eligibilityCriteria":71,"healthyVolunteers":68,"sex":72,"minAge":73,"maxAge":13,"enrollmentInfo":74,"targetDuration":13,"studyType":77,"phases":78,"briefSummary":79,"conditions":80,"keywords":13,"overallStatus":43,"whyStopped":13,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":86,"completionDateStruct":88,"leadSponsor":90,"locationsCount":91},{"fullName":5,"class":6},"University Hospital, Essen","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":13},[9],{"measure":10,"description":11,"timeFrame":12},"Differences in immune and endothelial cells in tissue with and without telangiectasia in HHT","Analysis of the differences in tissue with and without telangiectasia in HHT, e.g. immunfluorescence staining of tissue \u002F bone with endoglin-\u002F alk 1- antibodies and quantitative analysis of endoglin\u002F alk1 lacking cells such as immune cells or endothelial cells","after the patients who gave informed consent died their body will be donated to the Institute of Anatomy of the University Hospital Essen, samples will be taken until the body is cremated (regularly within 12 months)",null,{"allocation":15,"interventionModel":16,"interventionModelDescription":17,"primaryPurpose":18,"observationalModel":13,"timePerspective":13,"maskingInfo":19},"NA","SINGLE_GROUP","Genetic analyses (e.g. using qPCR, analyses of the genome and transcriptome), protein analyses (e.g. using Western blot) and immunohistochemical analyses (cryo- and PFA-fixed) of tissue samples from various organs will be carried out. Genome editing (e.g. using CRISPR\u002FCas9) will be applied. It is planned, for example, to generate human induced pluripotent stem cells (hiPSCs) from the biomaterials (in particular from fibroblasts and blood cells (PBMCs)). In addition, morphological imaging (3D) of the organs (including lungs and brain) is planned.","BASIC_SCIENCE",{"masking":20,"maskingDescription":13,"whoMasked":13},"NONE","HHT is also known as Osler's disease or Rendu-Osler-Weber syndrome and is inherited in an autosomal dominant manner. With a prevalence of 1 in 5,000 - 10,000 people, it is one of the relatively common rare diseases. In terms of molecular biology, affected individuals have a disorder of physiological angiogenesis, resulting in pathological vascular connections, so-called arteriovenous malformations. In principle, vascular changes in the context of HHT can affect all organ systems, but there are various predilection sites such as the skin and mucous membranes, liver, lungs, gastrointestinal tract and brain.\n\nIn preliminary work, we were able to show that in addition to the known mutations in the TGFβ signaling pathway, further trauma or previously unknown events must occur locally in order for the vascular short circuits to form. However, the exact disease mechanisms are still unclear. Obtaining human tissue samples is difficult due to ethical concerns (taking samples from living patients could lead to a worsening of the disease). The aim of this project is to analyze structural changes in tissue samples with and without vascular malformations.",[23],{"label":24,"type":6,"description":25,"interventionNames":26},"HHT Patients","Patients with HHT",[27],"Other: body donation in HHT",[29],{"type":6,"name":30,"description":31,"armGroupLabels":32,"otherNames":13},"body donation in HHT","Body donation in HHT",[24],[34],{"name":35,"role":36,"phone":37,"phoneExt":38,"email":39},"Freya Droege","CONTACT","0049201723","2481","freya.droege@uk-essen.de",[41],{"facility":42,"status":43,"city":44,"state":45,"zip":46,"country":47,"countryCode":48,"cosmosGeoPoint":49,"geoPoint":54,"contacts":55},"Institut für Anatomie und Klinik für HNO-Heilkunde, Universitätsklinik Essen","RECRUITING","Essen","North Rhine-Westphalia","45147","Germany","DE",{"type":50,"coordinates":51},"Point",[52,53],7.01228,51.45657,{"lat":53,"lon":52},[56],{"name":35,"role":36,"phone":57,"phoneExt":13,"email":39},"00492017232386",{"type":59,"investigatorFullName":35,"investigatorTitle":60,"investigatorAffiliation":5,"oldNameTitle":13,"oldOrganization":13},"PRINCIPAL_INVESTIGATOR","PD Dr. med. Freya Droege, Principle Investigator",[62,64],{"name":63,"class":6},"University Hospital Marburg",{"name":65,"class":6},"Johannes Gutenberg University Mainz","100656393","body-donation-in-hht-100656393",false,"NCT07826845","Body Donation in HHT","Inclusion Criteria:\n\n* positiv genetic testing for HHT and\u002F or at least three fulfilled Curacao Criteria\n* older than 18 years\n\nExclusion Criteria:\n\n* missing inclusion criteria","ALL","18 Years",{"count":75,"type":76},5,"ESTIMATED","INTERVENTIONAL",[15],"The possibility of body donation in hereditary hemorrhagic telangiectasia (HHT) means that human tissue samples with and without vascular malformations can be analyzed. The aim is to gain insights into the disease mechanism.",[81],"Hereditary Hemorrhagic Telangiectasia","2026-09-14",{"date":84,"type":85},"2026-09-17","ACTUAL",{"date":87,"type":85},"2025-10-01",{"date":89,"type":76},"2031-12-31",{"name":5,"class":6},1]