[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100614678":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":10,"centralContacts":21,"locations":30,"responsibleParty":51,"collaborators":10,"id":54,"slug":55,"hasResults":56,"nctId":57,"briefTitle":58,"officialTitle":58,"acronym":59,"eligibilityCriteria":60,"healthyVolunteers":56,"sex":61,"minAge":62,"maxAge":10,"enrollmentInfo":63,"targetDuration":10,"studyType":66,"phases":10,"briefSummary":67,"conditions":68,"keywords":71,"overallStatus":33,"whyStopped":10,"lastUpdateSubmitDate":76,"lastUpdatePostDateStruct":77,"startDateStruct":80,"completionDateStruct":82,"leadSponsor":84,"locationsCount":85},{"fullName":5,"class":6},"IRCCS Policlinico S. Donato","OTHER",[8,12,15,18],{"label":9,"type":10,"description":11,"interventionNames":10},"Adult patients with COL5A with TAAD",null,"Adult patients (aged over 50 years) with COL5A mutation and aortic manifestations",{"label":13,"type":10,"description":14,"interventionNames":10},"Adult patients with COL5A mutation without TAAD","Adult patients (aged over 50 years) with COL5A mutation in the absence of aortic manifestations",{"label":16,"type":10,"description":17,"interventionNames":10},"Young patients with COL5A mutation and TAAD","Young patients (aged 18-50 years) with COL5A mutation and aortic manifestations",{"label":19,"type":10,"description":20,"interventionNames":10},"Young patients with COL5A mutation without TAAD","Young patients (aged 18-50 years) with COL5A mutation in the absence of aortic manifestations",[22,27],{"name":23,"role":24,"phone":25,"phoneExt":10,"email":26},"Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree","CONTACT","+39 0252774705","segreteria.cardiogenetica@grupposandonato.it",{"name":28,"role":24,"phone":25,"phoneExt":10,"email":29},"Nathasha Samali Udugmpolage","Nathasha.Udugampolage@grupposandonato.it",[31],{"facility":32,"status":33,"city":34,"state":35,"zip":36,"country":35,"countryCode":37,"cosmosGeoPoint":38,"geoPoint":43,"contacts":44},"Cardiovascular Genetic Centre IRCCS Policlinico San Donato","RECRUITING","San Donato Milanese","Italy","20097","IT",{"type":39,"coordinates":40},"Point",[41,42],9.26838,45.41047,{"lat":42,"lon":41},[45,48],{"name":46,"role":24,"phone":47,"phoneExt":10,"email":29},"Nathasha Samali UDUGAMPOLAGE","(+39) 02 52774705",{"name":49,"role":50,"phone":10,"phoneExt":10,"email":10},"Alessandro Pini, MD","PRINCIPAL_INVESTIGATOR",{"type":50,"investigatorFullName":52,"investigatorTitle":53,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"Alessandro Pini","Director","100614678","fibroblast-line-evaluation-for-col5a-expression-and-thoracic-aortic-aneurysms-in-vitro-characterization-of-cutaneous-fibroblasts-in-adult-patients-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":64,"type":65},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.",[69,70],"Mutations Affecting the COL5A Gene","Aneurysm Aortic",[72,73,74,75],"COL5A","FIBROBLASTS","ascending and descending aortic aneurysms","thoracic aortic aneurysms","2026-07-01",{"date":78,"type":79},"2026-07-02","ACTUAL",{"date":81,"type":79},"2026-06-24",{"date":83,"type":65},"2028-12",{"name":5,"class":6},1]