Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases

NCT ID: NCT06786754

Last Updated: 2025-09-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

15 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-06-17

Study Completion Date

2026-02-28

Brief Summary

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The aim of the present study is to characterise the phenotype of fibroblasts and to classify different mechanisms involved in the onset and progression of TAAD in syndromic and non-syndromic subjects in order to evaluate potential markers related to TAAD.

Detailed Description

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The aim of the study is to analyse cutaneous fibroblast properties in patients with thoracic aortic aneurysms (both syndromic and non-syndromic) to identify differences in molecular mechanisms in collagen turnover pathways compared to healthy controls in the general population.

Conditions

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Rare Diseases Thoracic Aortic Aneurysm (TAA) Marfan Syndrome

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Syndromic TAA

Presence of thoracic aortic aneurysms and pleiotropic effects

No interventions assigned to this group

Non-syndromic TAA

Presence of thoracic aortic aneurysms without pleiotropic effects

No interventions assigned to this group

Healthy Controls

healthy volunteers from the general population, matched fro age with the two case groups

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

signed informed consent; subjects aged 18 years and above.


subjects with Marfan syndrome and thoracic aortic aneurysms (in clinical follow-up or with cardiac surgery program); subjects with non-syndromic thoracic aortic aneurysms (in clinical follow-up or with cardiac surgery program);


absence of any aortic/thoracic disease;

Exclusion Criteria

* Presence of any confounding cardiovascular risk factor (hypertension, dyslipidaemia, diabetes, smoking habits) or previous cardiovascular disease
* 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;
* A history of keloid formation (data found in anamnesis and medical records);
* Anaesthetic drug allergy (data found in anamnesis and medical records).
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University of Milan

OTHER

Sponsor Role collaborator

IRCCS Policlinico S. Donato

OTHER

Sponsor Role lead

Responsible Party

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Alessandro Pini

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Cardiovascular Genetic Centre IRCCS Policlinico San Donato

San Donato Milanese, Milan, Italy

Site Status

Countries

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Italy

References

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Ignotz RA, Massague J. Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix. J Biol Chem. 1986 Mar 25;261(9):4337-45.

Reference Type BACKGROUND
PMID: 3456347 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 21917992 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 34297930 (View on PubMed)

Other Identifiers

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FIBRA

Identifier Type: -

Identifier Source: org_study_id

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