Scientists hunt for hidden genes behind aortic aneurysms

NCT ID NCT03440697

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.

Study facts

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

Participants

About 3,000 people

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

Start date

Dec 2015

Expected to finish

Dec 2030

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

Families affected by aortopathy, aortic valve disease, or syndromic or genetic diagnosis that poses risk for the development of aortic disease who have not yet developed disease.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: * Open to external enrollment: * Subjects with a genetic diagnosis of Marfan Syndrome (MDS), Loeys-Dietz Syndrome (LDS), or Vascular Ehlers-Danlos Syndrome (EDS); (Positive genetic testing or a previous cardiac study required to be eligible) * Family members of eligible subjects (Only family members of subjects with syndromic diagnoses are eligible for external enrollment at this time) * Closed to external enrollment: * Subjects with aortic disease including TAA\* or dissection, aortic tortuosity, or aortic hypoplasia/stenosis (based on any cardiac imaging modality including echocardiography, CT, MRI, or angiography) * Subjects with aortic valve disease (bicuspid, unicuspid, or tricuspid disease) * Control subjects having tissue removed during a surgical procedure (e.g. coronary artery bypass graft surgery (CABG), cardiac transplant, etc.) Exclusion Criteria: • Inability or unwillingness to provide consent (assent when indicated)

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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

Scientists hunt for hidden genes behind aortic aneurysms

What the study statuses mean