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RecruitingNCT04005976MAC:H-TADUpdated Feb 2, 2026

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

An observational study in Aortic Aneurysm, Aortic Dissection and Aortic Diseases, sponsored by The University of Texas Health Science Center, Houston. Recruiting at 20 sites in 6 countries. Per ClinicalTrials.gov, last updated 2026-02-02.

Sponsored by The University of Texas Health Science Center, Houston · Observational

From the registry’s dates

  • Started Jun 2016; still recruiting 10 years 4 months later.
Study type
Observational
Model
Cohort
Time perspective
Other
Enrollment
5,000
Sex
All
01

Study summary

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.

Read the 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.

02

Conditions studied

  • Aortic Aneurysm
  • Aortic Dissection
  • Aortic Diseases
03

In context

Aortic Aneurysm

222 studies on the registry are indexed under Aortic Aneurysm; 63 are open to participants now.

This study's planned enrollment of 5,000 is above the median of 150 across 117 observational studies indexed under Aortic Aneurysm.

Browse Aortic Aneurysm studies →

Lead sponsor

The University of Texas Health Science Center, Houston is the lead sponsor of 897 studies on the registry; 214 are open to participants now.

Of its 173 completed or terminated interventional studies of FDA-regulated products, 142 (82%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
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

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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 can be obtained.

Exclusion criteria

Exclusion Criteria:

  • Patients without a confirmed causative variant for H-TAD.
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

05

Study design

Observational model
Cohort
Time perspective
Other
Enrollment
5,000 participants (estimated)
Target follow-up
20 Years
Patient registry
Yes
Biospecimen retention
Samples with dna

Groups and cohorts

  • Patients with causal mutations in the known H-TAD genes
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What researchers measure

Primary outcomes

  1. Number of participants with aortic dissection

    Aortic Dissection

    Time frame: 20 years

  2. Number of participants with aortic aneurysm requiring repair

    Aortic repair

    Time frame: 20 years

  3. Number of participants who died due to an aortic dissection/rupture or postoperative complications

    Mortality due to aortic disease

    Time frame: 20 years

  4. Number of participants with aortic dilation

    Aortic dilation

    Time frame: 20 years

  5. Rate of aortic growth

    Aortic diameter

    Time frame: 20 years

Secondary outcomes

  1. Number of participants with other cardiovascular complications

    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.

    Time frame: 20 years

07

Study locations

20 of 20 sites recruiting
08

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Feb 2, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT04005976
Responsible party
Dianna M Milewicz (Professor and President George Bush Chair In Cardiovascular Medicine, The University of Texas Health Science Center, Houston) — Principal investigator
First posted
Jul 2, 2019
Start date
Jun 15, 2016
Primary completion
Jan 1, 2037 (estimated)
Completion
Jan 1, 2037 (estimated)
Last update
Feb 2, 2026

Study contacts

Dianna M Milewicz, MD, PhD
Contact
Dianna.M.Milewicz@uth.tmc.edu
713-500-6725
Ernesto Calderon Martinez, MD
Contact
Ernesto.CalderonMartinez@uth.tmc.edu
(713) 500-6715
Dianna Milewicz, MD, PhD
study director · UTHealth

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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