Skin cells may reveal secrets of deadly aortic bulges
NCT ID NCT06786754
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at skin cells (fibroblasts) from people with Marfan syndrome and other genetic conditions that cause thoracic aortic aneurysms (a bulging of the main artery in the chest). Researchers want to find out how these cells behave differently and what genes or proteins are involved, which could lead to better ways to predict or treat the disease. The study involves 15 adults and does not test any new treatment.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 15 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jun 2025
- Expected to finish
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Jan 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
resaerch hospital for rare cardiovascular diseases
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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).
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Genom att skicka in godkänner du våra Användarvillkor
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
The full official record for this study. This one lists no contact details, but it is the first place any would appear.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Cardiovascular Genetic Centre IRCCS Policlinico San Donato
San Donato Milanese, Milan, 20097, Italy
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Other studies related to the condition(s) this trial covers.
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- Blood test may predict aneurysm surgery need in marfan patients
- Biobank aims to unlock genetic secrets of rare diseases
- AI could shorten the long road to a rare disease diagnosis