An observational study in Mutations Affecting the COL5A Gene and Aneurysm Aortic, sponsored by IRCCS Policlinico S. Donato. Recruiting at 1 site in Italy. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-07-02.
Sponsored by IRCCS Policlinico S. Donato · 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.
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.
This 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.
Researchers will:
Grow fibroblasts from participants' skin samples.
Assess cell growth, migration, and extracellular matrix formation.
Measure the quantity and type of collagen produced.
Evaluate molecules involved in collagen breakdown and repair.
The 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.
By 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.
131 studies on the registry are indexed under Aortic Aneurysm, Thoracic; 33 are open to participants now.
This study's planned enrollment of 20 is below the median of 154 across 65 observational studies indexed under Aortic Aneurysm, Thoracic.
Browse Aortic Aneurysm, Thoracic studies →IRCCS Policlinico S. Donato is the lead sponsor of 103 studies on the registry; 51 are open to participants now.
Compared within Aortic Aneurysm, Thoracic, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Aortic Aneurysm. The counts are of registry records indexed under each term, refreshed daily. How we classify →
Research hospital for rare cardiovascular diseases
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Exclusion Criteria:
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Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Immunosuppression
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Adult patients (aged over 50 years) with COL5A mutation and aortic manifestations
Adult patients (aged over 50 years) with COL5A mutation in the absence of aortic manifestations
Young patients (aged 18-50 years) with COL5A mutation and aortic manifestations
Young patients (aged 18-50 years) with COL5A mutation in the absence of aortic manifestations
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)
Time frame: 24 months
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
Time frame: 24 months
Plan to share: No — IPD sharing will be defined at the active enrolment process of the study
Started Jun 2026 (actual). Primary completion is estimated for Jan 2028, 19 months after the start.
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