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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Adult patients with COL5A with TAAD | Adult patients (aged over 50 years) with COL5A mutation and aortic manifestations | ||
| Adult patients with COL5A mutation without TAAD | Adult patients (aged over 50 years) with COL5A mutation in the absence of aortic manifestations | ||
| Young patients with COL5A mutation and TAAD | Young patients (aged 18-50 years) with COL5A mutation and aortic manifestations | ||
| Young patients with COL5A mutation without TAAD | Young patients (aged 18-50 years) with COL5A mutation in the absence of aortic manifestations |
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| 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 | 24 months |
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Inclusion Criteria:
Exclusion Criteria:
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Research hospital for rare cardiovascular diseases
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree | Contact | +39 0252774705 | segreteria.cardiogenetica@grupposandonato.it | |
| Nathasha Samali Udugmpolage | Contact | +39 0252774705 | Nathasha.Udugampolage@grupposandonato.it |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Cardiovascular Genetic Centre IRCCS Policlinico San Donato | Recruiting | San Donato Milanese | Italy | 20097 | Italy |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 32990218 | Result | Phan QM, Fine GM, Salz L, Herrera GG, Wildman B, Driskell IM, Driskell RR. Lef1 expression in fibroblasts maintains developmental potential in adult skin to regenerate wounds. Elife. 2020 Sep 29;9:e60066. doi: 10.7554/eLife.60066. | |
| 21917992 | Result | Lu P, Takai K, Weaver VM, Werb Z. Extracellular matrix degradation and remodeling in development and disease. Cold Spring Harb Perspect Biol. 2011 Dec 1;3(12):10.1101/cshperspect.a005058 a005058. doi: 10.1101/cshperspect.a005058. |
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IPD sharing will be defined at the active enrolment process of the study
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skin biopsy
| 34297930 | Result | Plikus MV, Wang X, Sinha S, Forte E, Thompson SM, Herzog EL, Driskell RR, Rosenthal N, Biernaskie J, Horsley V. Fibroblasts: Origins, definitions, and functions in health and disease. Cell. 2021 Jul 22;184(15):3852-3872. doi: 10.1016/j.cell.2021.06.024. |
| ID | Term |
|---|---|
| D001014 | Aortic Aneurysm |
| D017545 | Aortic Aneurysm, Thoracic |
| ID | Term |
|---|---|
| D000783 | Aneurysm |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D001018 | Aortic Diseases |
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