[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mutations-affecting-the-col5a-gene\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mutations-affecting-the-col5a-gene":42},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":4,"hasResults":10,"nctId":11,"briefTitle":12,"officialTitle":12,"acronym":13,"eligibilityCriteria":14,"healthyVolunteers":10,"sex":15,"minAge":16,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":25,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":5},"100614678",false,"NCT07282717","Fibroblast Line Evaluation for COL5A eXpression and Thoracic Aortic Aneurysms: in Vitro Characterization of Cutaneous Fibroblasts in Adult Patients","FLEX5 project","Inclusion Criteria:\n\n* Subjects aged 18 and above\n* Mutation in COL5A\n* Signed informed consent\n\nExclusion Criteria:\n\n* Corticosteroid or Steroids or Fluorochinolones treatment within six months before enrollment\n* Subjects on chronic immunosuppressive therapies such as oral steroids, but also on chronic topical steroids in the area of investigation\n* Subject on anticoagulant therapy\n* History of coagulation factor defects\u002Falterations (data found in anamnesis and medical records)\n* A history of keloid formation (data found in anamnesis and medical records)\n* Anesthetic drug allergy (data found in anamnesis and medical records)","ALL","18 Years",{"count":18,"type":19},20,"ESTIMATED","OBSERVATIONAL","This study examines adults with COL5A gene mutations to understand why some develop aortic aneurysms while others do not. Participants provide a small skin biopsy, and researchers analyze fibroblasts to evaluate collagen production, extracellular matrix organization, and connective-tissue signaling pathways. The goal is to identify biological differences that may explain variable vascular risk and support future personalized monitoring and treatment strategies.",[23,24],"Mutations Affecting the COL5A Gene","Aneurysm Aortic",[26,27,28,29],"COL5A","FIBROBLASTS","ascending and descending aortic aneurysms","thoracic aortic aneurysms","RECRUITING","2026-07-01",{"date":33,"type":34},"2026-07-02","ACTUAL",{"date":36,"type":34},"2026-06-24",{"date":38,"type":19},"2028-12",{"name":40,"class":41},"IRCCS Policlinico S. Donato","OTHER",""]