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Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

This observational study, called the Montalcino Aortic Consortium (MAC), is looking to gather information from up to 5000 people with certain genetic changes related to heritable thoracic aortic disease (H-TAD). The goal is to better understand how these genetic changes affect the aorta (the body's main artery) and to identify other factors that influence the disease. The study aims to track participants for 20 years to see how many experience an aortic dissection (a tear in the aorta), need surgery for an aortic aneurysm (a bulge in the aorta), or die from aortic complications. You may be able to join if you or a family member have a confirmed genetic change in specific H-TAD genes, regardless of age, sex, or race. The study's status is currently unclear.

Study design
This is an observational study planning to enroll up to 5000 participants. It will collect information about people with specific genetic changes related to aortic disease.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for 20 years to track outcomes related to aortic health.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT04005976

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Recruiting
Not specifiedAll AgesObservational
The University of Texas Health Science Center, Houston
~5,000 participants
Updated 2026-02-02 on ClinicalTrials.gov

At a glance

Recruiting sites
20 of 20 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Number of participants with aortic dissection
Measured over 20 years
+4 more outcomes measured

Conditions

Aortic Aneurysm
Aortic Dissection
Aortic Diseases

Explore related trials

Aorta DiseaseAortic AneurysmAortic DissectionACTA2 GeneCOL3A1 GeneFBN1 GeneFORKHEAD BOX E3LOX GeneMAT2A GeneMICROFIBRILLAR-ASSOCIATED PROTEIN 5Mothers Against Decapentaplegic Homolog 3MYH11 GeneMYLK GenePRKG1 GeneTGFB2 GeneTGFB3 GeneTGFBR1 GeneTGFBR2 Gene

Where it's being run

20 sites across 16 states
California3
Texas3
Kentucky1
Massachusetts1
Michigan1
Missouri1
Nebraska1
New York1

Study leadership

  • Dianna Milewicz, MD, PhD · STUDY_DIRECTOR · UTHealth

Who to contact

Dianna M Milewicz, MD, PhD
[email protected]
713-500-6725
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Patients and their relatives with a confirmed pathogenic, likely pathogenic variant, or variant of unknown clinical significance in at least one of the H-TAD genes (i.e. TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, ACTA2, MYH11, MYLK, PRKG1, MAT2A, MFAP5, LOX, COL3A1, FOXE3, and FBN1).
Patients of all ages, sex and race for which informed consent can be obtained.

Exclusion

Patients without a confirmed causative variant for H-TAD.

What this trial measures

  • Number of participants with aortic dissection20 years

    Aortic Dissection

  • Number of participants with aortic aneurysm requiring repair20 years

    Aortic repair

  • Number of participants who died due to an aortic dissection/rupture or postoperative complications20 years

    Mortality due to aortic disease

  • Number of participants with aortic dilation20 years

    Aortic dilation

  • Rate of aortic growth20 years

    Aortic diameter