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Scientists hunt for hidden genes behind aortic aneurysms

NCT ID NCT03440697

Ongoing Knowledge-focused Sponsor: Yale University Source: ClinicalTrials.gov ↗

First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to support future research into better diagnosis and treatment.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to
If successful, this could reveal new genetic causes of aortic disease, leading to better screening and potential targets for future treatments.
What could go wrong
This is an observational study, not a treatment trial. It may not directly benefit participants, and genetic discoveries may take years to translate into clinical use.

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

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Conditions

The condition(s) this trial relates to.

aneurysm or dilatation of ascending aorta Aneurysm, Ascending Aorta aortic aneurysm aortic aneurysm, familial thoracic 1 Aortic Aneurysm, Giant Congenital aortic disorder Aortic Valve Disease aortic valve disease 1 aortic valve disease 2 aortic valve disorder arterial tortuosity syndrome autosomal recessive cutis laxa type 1 Bicuspid Aortic Valve Disease congenital contractural arachnodactyly cutis laxa, autosomal recessive, type 1A Dissection, Thoracic Aorta Ehlers-Danlos Syndrome, Type IV Ehlers-Danlos syndrome, vascular type familial bicuspid aortic valve familial thoracic aortic aneurysm and aortic dissection heart disorder Loeys-Dietz syndrome Marfan syndrome PHACE syndrome Shprintzen Golberg craniosynostosis Shprintzen-Goldberg syndrome thoracic aortic aneurysm tricuspid valve disorder Turner syndrome

As listed by the trial registrant

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

AORTIC VALVE DISEASE AORTOPATHIES ARTERIAL TORTUOSITY SYNDROME ASCENDING AORTIC ANEURYSM ASCENDING AORTIC DISEASE AUTOSOMAL RECESSIVE CUTIS LAXA BICUSPID AORTIC VALVE BICUSPID AORTIC VALVE-ASSOCIATED AORTOPATHY CONGENITAL CONTRACTURAL ARACHNODACTYLY DESCENDING AORTIC ANEURYSM DESCENDING AORTIC DISEASE FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION LOEYS-DIETZ SYNDROME MARFAN SYNDROME PHACE SYNDROME SHPRINTZEN-GOLDBERG SYNDROME THORACIC AORTIC ANEURYSM THORACIC AORTIC DISEASE THORACIC AORTIC DISSECTION THORACIC AORTIC RUPTURE TURNER SYNDROME VASCULAR EHLERS-DANLOS SYNDROME

Contacts and locations

Locations

  • Childrens Healthcare of Atlanta

    Atlanta, Georgia, 30329, United States

  • IU School of Medicine

    Indianapolis, Indiana, 46202, United States

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