Actively Recruiting

All Genders
Healthy Volunteers
NCT04005976

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Led by The University of Texas Health Science Center, Houston · Updated on 2026-02-02

5000

Participants Needed

20

Research Sites

1072 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Who Can Participate

All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • 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 (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
Not Eligible

You will not qualify if you...

  • Patients without a confirmed causative variant for heritable thoracic aortic disease (H-TAD)

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 20 locations

1

HOAG memorial hospital presbyterian

Newport Beach, California, United States, 92663

Actively Recruiting

2

Hoag Memorial Hospital Presbyterian

Newport Beach, California, United States, 92663

Actively Recruiting

3

Sutter Health

Sacramento, California, United States, 95816

Actively Recruiting

4

University of Kentucky

Lexington, Kentucky, United States, 40536

Actively Recruiting

5

Massachusetts General Hospital

Boston, Massachusetts, United States, 02114

Actively Recruiting

6

University of Michigan

Ann Arbor, Michigan, United States, 48109

Actively Recruiting

7

Washington University in St. Louis

St Louis, Missouri, United States, 63110

Actively Recruiting

8

University of Nebraska Medical Center

Omaha, Nebraska, United States, 68198

Actively Recruiting

9

St. Francis Hospital (Catholic Health)

Roslyn, New York, United States, 11576

Actively Recruiting

10

Oregon Health & Science University

Portland, Oregon, United States, 97239

Actively Recruiting

11

Baylor College of Medicine

Houston, Texas, United States, 77030

Actively Recruiting

12

Texas Children's Hospital

Houston, Texas, United States, 77030

Actively Recruiting

13

The University of Texas Health Science Center at Houston

Houston, Texas, United States, 77030

Actively Recruiting

14

Inova Health System

Falls Church, Virginia, United States, 22042

Actively Recruiting

15

University of Sydney

Sydney, New South Wales, Australia, 2006

Actively Recruiting

16

Ghent University Hospital (UZ Gent)

Ghent, East Flanders, Belgium, 9000

Actively Recruiting

17

Foothills Medical Centre / Alberta Health Services

Calgary, Alberta, Canada, T2N 2T9

Actively Recruiting

18

Toronto General Hospital (UHN)

Toronto, Ontario, Canada, M5G 2C4

Actively Recruiting

19

Hospital Universitari Vall d'Hebron

Barcelona, Catalonia, Spain, 08035

Actively Recruiting

20

Great Ormond Street Hospital

London, England, United Kingdom, WC1N 3JH

Actively Recruiting

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Research Team

D

Dianna M Milewicz, MD, PhD

CONTACT

E

Ernesto Calderon Martinez, MD

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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