Skin biopsy could reveal hidden aneurysm risk in gene mutation carriers
NCT ID NCT07282717
First seen Jan 05, 2026 · Last updated May 11, 2026 · Updated 19 times
Summary
This study looks at 20 adults with COL5A gene mutations to find out why some develop aortic aneurysms (bulging of the main artery) and others do not. Researchers will take a small skin sample and study the cells to see how they produce collagen and organize connective tissue. The goal is to identify biological differences that could lead to better, personalized monitoring and care.
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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.
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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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Cardiovascular Genetic Centre IRCCS Policlinico San Donato
San Donato Milanese, Italy, 20097, Italy
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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