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Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Who can join

All ages · All sexes · Healthy volunteers welcome

Inclusion Criteria:

* 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 Criteria:

* Patients without a confirmed causative variant for H-TAD.

About the study

The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with mutations in known heritable thoracic aortic disease (H-TAD) genes, define the phenotype associated with these genes, and determine genetic and environmental modifiers of H-TAD.

Sponsor: The University of Texas Health Science Center, Houston · Participants: 5,000 · Started: Jun 15, 2016

Contact the study team

• Dianna M Milewicz, MD, PhD · Phone: 713-500-6725
• Ernesto Calderon Martinez, MD · Phone: (713) 500-6715

Official record on ClinicalTrials.gov — NCT04005976

Locations in the U.S.

Conditions

• Aortic Aneurysm
• Aortic Dissection

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.