[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100614678":3},{"organization":4,"outcomesModule":7,"designInfo":17,"detailedDescription":20,"studyPopulation":21,"armGroups":22,"interventions":16,"overallOfficials":16,"centralContacts":35,"locations":44,"responsibleParty":65,"collaborators":16,"id":68,"slug":16,"hasResults":69,"nctId":70,"briefTitle":71,"officialTitle":71,"acronym":72,"eligibilityCriteria":73,"healthyVolunteers":69,"sex":74,"minAge":75,"maxAge":16,"enrollmentInfo":76,"targetDuration":16,"studyType":79,"phases":16,"briefSummary":80,"conditions":81,"keywords":84,"overallStatus":47,"whyStopped":16,"lastUpdateSubmitDate":89,"lastUpdatePostDateStruct":90,"startDateStruct":93,"completionDateStruct":95,"leadSponsor":97,"locationsCount":98},{"fullName":5,"class":6},"IRCCS Policlinico S. Donato","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":16,"otherOutcomes":16},[9,13],{"measure":10,"description":11,"timeFrame":12},"Fibroblasts phenotype","In vitro characterization and evaluation of fibroblasts phenotype in adult patients with COL5A mutations with or without aortic involvement (ascending and descending aortic aneurysms)","24 months",{"measure":14,"description":15,"timeFrame":12},"Differences molecular mechanisms in collagen","Identify differences in molecular mechanisms involved in collagen and ECM turnover pathways between family members according to the vascular manifestation and the genetic mutation in COL5A gene",null,{"allocation":16,"interventionModel":16,"interventionModelDescription":16,"primaryPurpose":16,"observationalModel":18,"timePerspective":19,"maskingInfo":16},"CASE_CONTROL","CROSS_SECTIONAL","Individuals with mutations in the collagent type V, alpha (COL5A) gene show variable clinical outcomes. While some develop aortic aneurysms, others with the same mutation remain free of cardiovascular complications. The mechanisms driving this variability are not fully understood.\n\nThis study aims to investigate biological differences at the cellular level by analyzing fibroblasts derived from a small skin biopsy. Fibroblasts play a key role in the production and organization of type V collagen and the extracellular matrix.\n\nResearchers will:\n\nGrow fibroblasts from participants' skin samples.\n\nAssess cell growth, migration, and extracellular matrix formation.\n\nMeasure the quantity and type of collagen produced.\n\nEvaluate molecules involved in collagen breakdown and repair.\n\nThe study compares individuals with COL5A mutations who have documented aortic aneurysms to those with the same mutation but no vascular involvement. Analyses will also consider differences among family members who share the same genetic variant.\n\nBy characterizing fibroblast behavior, the study seeks to clarify why some individuals develop aortic disease while others remain unaffected. Findings may help identify cellular features associated with increased or reduced vascular risk and guide future strategies for monitoring, prevention, and personalized care in patients with COL5A mutations.","Research hospital for rare cardiovascular diseases",[23,26,29,32],{"label":24,"type":16,"description":25,"interventionNames":16},"Adult patients with COL5A with TAAD","Adult patients (aged over 50 years) with COL5A mutation and aortic manifestations",{"label":27,"type":16,"description":28,"interventionNames":16},"Adult patients with COL5A mutation without TAAD","Adult patients (aged over 50 years) with COL5A mutation in the absence of aortic manifestations",{"label":30,"type":16,"description":31,"interventionNames":16},"Young patients with COL5A mutation and TAAD","Young patients (aged 18-50 years) with COL5A mutation and aortic manifestations",{"label":33,"type":16,"description":34,"interventionNames":16},"Young patients with COL5A mutation without TAAD","Young patients (aged 18-50 years) with COL5A mutation in the absence of aortic manifestations",[36,41],{"name":37,"role":38,"phone":39,"phoneExt":16,"email":40},"Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree","CONTACT","+39 0252774705","segreteria.cardiogenetica@grupposandonato.it",{"name":42,"role":38,"phone":39,"phoneExt":16,"email":43},"Nathasha Samali Udugmpolage","Nathasha.Udugampolage@grupposandonato.it",[45],{"facility":46,"status":47,"city":48,"state":49,"zip":50,"country":49,"countryCode":51,"cosmosGeoPoint":52,"geoPoint":57,"contacts":58},"Cardiovascular Genetic Centre IRCCS Policlinico San Donato","RECRUITING","San Donato Milanese","Italy","20097","IT",{"type":53,"coordinates":54},"Point",[55,56],9.26838,45.41047,{"lat":56,"lon":55},[59,62],{"name":60,"role":38,"phone":61,"phoneExt":16,"email":43},"Nathasha Samali UDUGAMPOLAGE","(+39) 02 52774705",{"name":63,"role":64,"phone":16,"phoneExt":16,"email":16},"Alessandro Pini, MD","PRINCIPAL_INVESTIGATOR",{"type":64,"investigatorFullName":66,"investigatorTitle":67,"investigatorAffiliation":5,"oldNameTitle":16,"oldOrganization":16},"Alessandro Pini","Director","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":77,"type":78},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.",[82,83],"Mutations Affecting the COL5A Gene","Aneurysm Aortic",[85,86,87,88],"COL5A","FIBROBLASTS","ascending and descending aortic aneurysms","thoracic aortic aneurysms","2026-07-01",{"date":91,"type":92},"2026-07-02","ACTUAL",{"date":94,"type":92},"2026-06-24",{"date":96,"type":78},"2028-12",{"name":5,"class":6},1]