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Skin biopsy may reveal hidden aneurysm risk in COL5A patients

NCT ID NCT07282717

Knowledge-focused Sponsor: IRCCS Policlinico S. Donato Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jul 02, 2026 · Updated 1 time

Summary

This study looks at 20 adults with COL5A gene mutations to find out why some get aortic aneurysms (a bulge in the main artery) and others don't. Researchers will take a small skin sample and study the cells to see differences in how they build and organize tissue. The goal is to learn more about the disease and help create better, personalized monitoring in the future.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 20 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jun 2026

Expected to finish

Dec 2028

An estimate. End dates often move.

Lead sponsor

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

Research hospital for rare cardiovascular diseases

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show 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: * Subjects aged 18 and above * Mutation in COL5A * Signed informed consent Exclusion Criteria: * 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)

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Conditions

The condition(s) this trial relates to.

aortic aneurysm thoracic aortic aneurysm

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Aneurysm aortic Mutations affecting the COL5A gene

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. 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

  • Cardiovascular Genetic Centre IRCCS Policlinico San Donato

    RECRUITING

    San Donato Milanese, Italy, 20097, Italy

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