ClinicalTrials.gov record NCT06786754

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 6, 2026

FIBROBLASTS AND THORACIC AORTIC ANEURYSMS: IN VITRO CHARACTERIZATION IN PATIENTS WITH MARFAN SYNDROME AND GENETIC AORTIC DISEASES

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusEnrolling by invitationThe study enrols only people the study team invites, for example patients already at a particular clinic. It is not open to the public.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.

Age18 years old and older

SexAll

LocationItaly

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational case-control study compares skin (cutaneous) fibroblasts from adults with Marfan syndrome or non‑syndromic thoracic aortic aneurysm to healthy, age‑matched controls. Researchers will grow and test fibroblasts in the lab to examine cell shape and movement, gene and protein expression related to collagen turnover, and enzymes that break down the extracellular matrix. The study aims to describe fibroblast differences and identify molecular markers linked to the onset or progression of thoracic aortic aneurysms.

What it is studying. The study is testing whether skin fibroblasts from adults with Marfan syndrome or non‑syndromic thoracic aortic aneurysm show distinct cell phenotypes and molecular signs in collagen turnover and extracellular matrix remodeling compared with healthy controls. It aims to classify mechanisms involved in the onset and progression of thoracic aortic aneurysmal disease and to evaluate potential markers related to TAAD.

What the researchers hope to learn. To characterise fibroblast phenotype and collagen turnover pathways in syndromic and non‑syndromic thoracic aortic aneurysms, classify mechanisms involved in disease onset and progression, and evaluate potential molecular markers related to TAAD.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

(general for the study):
signed informed consent; subjects aged 18 years and above.
Inclusion Criteria (Case):
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);
Inclusion Criteria (healthy controls):
absence of any aortic/thoracic disease;

Exclusion criteria

(all groups):
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).

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

After giving informed consent, participants will provide a cutaneous (skin) sample for fibroblast analysis. Lab studies will examine cell morphology and migration (wound‑healing/scratch tests), gene and protein expression related to collagen and extracellular matrix (mRNA extraction/real‑time PCR and slot blot), and enzyme activity (SDS‑zymography). Participation involves a clinic visit for sample collection (typically a single timepoint) and laboratory analyses, with follow‑up or analysis timeframes reported up to 24 months.

How the study is structured. Observational, case‑control, cross‑sectional. Adults give a small skin sample; researchers culture fibroblasts and analyze them in the lab (no treatment is given). Main lab procedures include microscopy for cell morphology, a wound‑healing test for cell migration, gene and protein analyses for collagen and extracellular matrix pathways, and activity assays for matrix‑degrading enzymes.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The registry says participants are enrolled by invitation. Who decides who is invited, and how?
The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on Marfan syndrome

Clinical trials20 trials listed for Marfan syndromeEvery trial the registry lists for Marfan syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Marfan syndrome researchLatest monthly update: September 2026. Includes: After open aortic repair. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Jun 17, 2025
Primary completion: December 2026 (estimated)
Study completion: January 2027 (estimated)
Target enrollment: 15 participants (estimated)
Last updated on registry: May 28, 2026
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: IRCCS Policlinico S. Donato
Principal investigator: Alessandro Pini, Principal Investigator
IRCCS Policlinico S. Donato
Collaborators: University of Milan

Participating sites (1)

Cardiovascular Genetic Centre IRCCS Policlinico San Donato
San Donato Milanese, Milan, 20097 · Italy

Terms used on this page · explanations by MedicalUpdates.ai

informed consent: The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
follow-up: The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
Corticosteroid: Steroid medicines, such as prednisone, that reduce inflammation. Studies often require a stable dose at entry or measure whether the study treatment allows the dose to be reduced.
enrollment: The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
immunosuppressive: A medicine that reduces the activity of the immune system. Studies of autoimmune conditions often require a stable dose, a prior failure, or a washout of such medicines.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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