Fibroblast Line Evaluation for COL5A eXpression and Thoracic Aortic Aneurysms: in Vitro Characterization of Cutaneous Fibroblasts in Adult Patients

NCT07282717 | Not Yet Recruiting

• 1 other identifier: FLEX5 project
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Mutations Affecting the COL5A Gene; Aneurysm Aortic

Keywords

COL5A; FIBROBLASTS; ascending and descending aortic aneurysms; thoracic aortic aneurysms

Outcome Measures

Primary Outcomes (2)

• 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

Study Arms (4)

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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Research hospital for rare cardiovascular diseases

You may qualify if:

• Subjects aged 18 and above
• Mutation in COL5A
• Signed informed consent

You may not qualify if:

• Corticosteroid or Steroids or Fluorochinolones treatment within six months before enrollment
• Subjects on chronic immunosuppressive therapies such as oral steroids, but also on chronic topical steroids in the area of investigation
• Subject on anticoagulant therapy
• History of coagulation factor defects/alterations (data found in anamnesis and medical records)
• A history of keloid formation (data found in anamnesis and medical records)
• Anesthetic drug allergy (data found in anamnesis and medical records)

Sponsors & Collaborators

• IRCCS Policlinico S. Donato: lead

Study Sites (1)

Cardiovascular Genetic Centre IRCCS Policlinico San Donato

San Donato Milanese, Italy, 20097, Italy

Location

Related Publications (3)

• 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.

  PMID: 32990218 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):a005058. doi: 10.1101/cshperspect.a005058.

  PMID: 21917992 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.

  PMID: 34297930 RESULT

Biospecimen

Retention: SAMPLES WITHOUT DNA

skin biopsy

MeSH Terms

Conditions

Aortic Aneurysm; Aortic Aneurysm, Thoracic

Condition Hierarchy (Ancestors)

Aneurysm; Vascular Diseases; Cardiovascular Diseases; Aortic Diseases

Central Study Contacts

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

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director

Study Record Dates

• First Submitted: December 2, 2025
• First Posted: December 15, 2025
• Study Start: January 13, 2026
• Primary Completion (Estimated): January 1, 2028
• Study Completion (Estimated): December 1, 2028
• Last Updated: February 2, 2026

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)