Rare DiseasesFIBRANCT06786754
Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases
An observational study of Rare Diseases and Thoracic Aortic Aneurysm (TAA), run by IRCCS Policlinico S. Donato at 1 site in Italy.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Rare Diseases, Thoracic Aortic Aneurysm (TAA), Marfan Syndrome
- How many people
- 15 participants
- Where
- 1 siteItaly
- Study dates
- 17 Jun 2025to Jan 2027
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: resaerch hospital for rare cardiovascular diseases
Who may be able to join
- 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;
Who cannot join
- 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).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site
Cardiovascular Genetic Centre IRCCS Policlinico San Donato
San Donato Milanese, Milan, 20097
About this study
Official title: FIBROBLASTS AND THORACIC AORTIC ANEURYSMS: IN VITRO CHARACTERIZATION IN PATIENTS WITH MARFAN SYNDROME AND GENETIC AORTIC DISEASES
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.
Read the detailed description
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.
- Keywords
- Fibroblasts, Collagen turnover, thoracic aortic aneuryms
- Medical subject headings
- Rare Diseases, Aortic Aneurysm, Thoracic, Marfan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Syndromic TAA | Presence of thoracic aortic aneurysms and pleiotropic effects | |
| Non-syndromic TAA | Presence of thoracic aortic aneurysms without pleiotropic effects | |
| Healthy Controls | healthy volunteers from the general population, matched fro age with the two case groups |
What is being measured
The primary outcome is the main question the study is designed to answer.
Fibroblasts phenotype: cell morphology and migration
cell morphology: phase-contrast microscopy
Measured: 12 months
Fibroblasts phenotype: cell morphology and migration
Cell migration: wound healing assay (scratch test).
Measured: 12 months
Secondary outcomes (3)
Expression of genes and proteins involved in collagen turnover and extracellular matrix remodeling pathways
mRNA extraction and real-time PCR to assess the expression of genes involved in collagen turnover;
Measured: 16 months
Expression of genes and proteins involved in collagen turnover and extracellular matrix remodeling pathways
Slot blot to assess ECM proteins and degrading proteases.
Measured: 16 months
Levels of metalloproteinases involved in ECM degradation
SDS-zymography
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jan 2025
- Study start17 Jun 2025
- Primary completionDec 2026 (estimated)
- Study completionJan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 15 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Policlinico S. Donato
- Sponsor type
- University, hospital or other
- Collaborators
- University of Milan
- Responsible party
- Principal investigator, Alessandro Pini, IRCCS Policlinico S. Donato
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06786754
- Sponsor's protocol ID
- FIBRA
- Acronym
- FIBRA
- Status last verified
- May 2026
- First submitted
- 9 Jan 2025
- Last updated
- 28 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: IPD sharing will be defined at the active enrolment process of the study
Publications
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.
PubMed 3456347Lu 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.
PubMed 21917992Plikus 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.
PubMed 34297930