Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease (MAC:H-TAD)

January 29, 2026 updated by: Dianna M Milewicz, The University of Texas Health Science Center, Houston
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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

The MAC will provide the infrastructure to assemble large cohorts of patients with mutations in known H-TAD genes, define the phenotype associated with these genes, and determine genetic and environmental modifiers and other biomarkers of H-TAD. Recruitment of large numbers of patients world-wide will improve the precision of data used to predict disease risks. Retrospective and prospective study designs will be used to fully characterize the different stages of H-TAD (i.e. susceptibility, presymptomatic, and symptomatic) and other complications associated with the H-TAD genes, and examine clinical and environmental factors that define risk of aortic dissections. The data from MAC will provide the critical clinical information for precise management of thoracic aortic disease and other complications caused by mutations of these genes and improve the medical management and outcome of patients with genetically triggered, lethal vascular diseases.

Study Type

Observational

Enrollment (Estimated)

5000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Australia
    • New South Wales
  • Belgium
    • East Flanders
      • Ghent, East Flanders, Belgium, 9000
  • Canada
    • Alberta
      • Calgary, Alberta, Canada, T2N 2T9
        • Recruiting
        • Foothills Medical Centre / Alberta Health Services
        • Contact:
    • Ontario
      • Toronto, Ontario, Canada, M5G 2C4
  • Spain
    • Catalonia
      • Barcelona, Catalonia, Spain, 08035
  • United Kingdom
    • England
      • London, England, United Kingdom, WC1N 3JH
  • United States
    • California
      • Newport Beach, California, United States, 92663
      • Sacramento, California, United States, 95816
    • Kentucky
      • Lexington, Kentucky, United States, 40536
    • Massachusetts
      • Boston, Massachusetts, United States, 02114
    • Michigan
      • Ann Arbor, Michigan, United States, 48109
    • Missouri
      • St Louis, Missouri, United States, 63110
    • Nebraska
      • Omaha, Nebraska, United States, 68198
    • New York
      • Roslyn, New York, United States, 11576
    • Oregon
      • Portland, Oregon, United States, 97239
        • Recruiting
        • Oregon Health & Science University
        • Contact:
    • Texas
      • Houston, Texas, United States, 77030
      • Houston, Texas, United States, 77030
        • Recruiting
        • The University of Texas Health Science Center at Houston
        • Contact:
          • Program Manager
          • Phone Number: 713-500-7386
      • Houston, Texas, United States, 77030
        • Recruiting
        • Texas Children's Hospital
        • Contact:
    • Virginia
      • Falls Church, Virginia, United States, 22042

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Individuals with a known mutation for H-TAD and their relatives who also carry the mutation

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Patients with causal mutations in the known H-TAD genes

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of participants with aortic dissection
Time Frame: 20 years
Aortic Dissection
20 years
Number of participants with aortic aneurysm requiring repair
Time Frame: 20 years
Aortic repair
20 years
Number of participants who died due to an aortic dissection/rupture or postoperative complications
Time Frame: 20 years
Mortality due to aortic disease
20 years
Number of participants with aortic dilation
Time Frame: 20 years
Aortic dilation
20 years
Rate of aortic growth
Time Frame: 20 years
Aortic diameter
20 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of participants with other cardiovascular complications
Time Frame: 20 years
Number of participants with other cardiovascular complications including ) other arterial dissection, 2) other arterial dilation or aneurysm requiring repair, 3) other arterial occlusion (i.e. ≥50% stenosis), 4) stroke, 5) myocardial infarction, 6) congenital heart defect (bicuspid aortic valve and type of fusion, patent ductus arteriosus, atrial septal defect, ventricular septal defect, aortic coarctation, other), 7) mitral valve prolapse, 8) mitral valve regurgitation, 9) mitral valve disease requiring repair, 10) cardiomyopathy and type, 11) left ventricular hypertrophy (interventricular septal thickness >10 mm), 12) arrhythmia (requiring a pacemaker), 13) pulmonary artery dilation, 14) pulmonary hypertension.
20 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

The University of Texas Health Science Center, Houston

Investigators

  • Study Director: Dianna Milewicz, MD, PhD, UTHealth

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 15, 2016

Primary Completion (Estimated)

January 1, 2037

Study Completion (Estimated)

January 1, 2037

Study Registration Dates

First Submitted

July 1, 2019

First Submitted That Met QC Criteria

July 1, 2019

First Posted (Actual)

July 2, 2019

Study Record Updates

Last Update Posted (Actual)

February 2, 2026

Last Update Submitted That Met QC Criteria

January 29, 2026

Last Verified

January 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HSC-MS-16-0191

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Aortic Aneurysm

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Mauritania

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe