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Skin biopsy may reveal hidden aneurysm risk in COL5A patients

NCT ID NCT07282717

Not yet recruiting Knowledge-focused Sponsor: IRCCS Policlinico S. Donato Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

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.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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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

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Cardiovascular Genetic Centre IRCCS Policlinico San Donato

    San Donato Milanese, Italy, 20097, Italy

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••