Aortic AneurysmMAC:H-TADNCT04005976
Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
An observational study of Aortic Aneurysm and Aortic Dissection, run by The University of Texas Health Science Center, Houston at 20 sites in 6 countries.
Trial 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 more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Aortic Aneurysm, Aortic Dissection, Aortic Diseases
- How many people
- 5,000 participants
- Where
- 20 sitesin 6 countries
- Study dates
- 15 Jun 2016to 1 Jan 2037
- How long will I take part?
- 20 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals with a known mutation for H-TAD and their relatives who also carry the mutation
Who may be able to join
- 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.
Who cannot join
- Patients without a confirmed causative variant for H-TAD.
Trial locations and contacts
20 sites in 6 countries. Contact the study team or a site near you to ask about taking part.
20 sites in 6 countries
United States14 sites, 14 recruiting
- Recruiting
University of Michigan
Ann Arbor, Michigan, 48109
Marion Hofmann, MD, mhofmann@med.umich.edu
- Recruiting
Massachusetts General Hospital
Boston, Massachusetts, 02114
Mark Lindsay, MD, Lindsay.Mark@mgh.harvard.edu
- Recruiting
Inova Health System
Falls Church, Virginia, 22042
Christopher Jordan, MD, Christopher.Jordan@inova.org
- Recruiting
Baylor College of Medicine
Houston, Texas, 77030
Ginger Etheridge, Ginger.Etheridge@bcm.edu
- Recruiting
Texas Children's Hospital
Houston, Texas, 77030
Shaine Morris, MD, shainem@bcm.edu
- Recruiting
The University of Texas Health Science Center at Houston
Houston, Texas, 77030
Program Manager, 713-500-7386
- Recruiting
University of Kentucky
Lexington, Kentucky, 40536
Mary Sheppard, mary.sheppard@uky.edu
- Recruiting
HOAG memorial hospital presbyterian
Newport Beach, California, 92663
Site Investigator, 949-650-3350
Rita Weise, MSN, NP, ACNPC-AG, 949-650-3350
- Recruiting
Hoag Memorial Hospital Presbyterian
Newport Beach, California, 92663
Chelsey Torres, MD, Chelsey.torres@hoag.org
- Recruiting
University of Nebraska Medical Center
Omaha, Nebraska, 68198
Kelly Erickson, kelly.erickson@unmc.edu
- Recruiting
Oregon Health & Science University
Portland, Oregon, 97239
Sherene Shalhub, MD, shalhub@ohsu.edu
- Recruiting
St. Francis Hospital (Catholic Health)
Roslyn, New York, 11576
Timothy Carter, timothy.carter@chsli.org
- Recruiting
Sutter Health
Sacramento, California, 95816
Matthew Solomon, MD, matthew.solomon2@sutterhealth.org
- Recruiting
Washington University in St. Louis
St Louis, Missouri, 63110
Leslie Boyer, leslieboyer@wustl.edu
Canada2 sites, 2 recruiting
- Recruiting
Foothills Medical Centre / Alberta Health Services
Calgary, Alberta, T2N 2T9
Julien Marcadier, MD, julien.marcadier@ahs.ca
- Recruiting
Toronto General Hospital (UHN)
Toronto, Ontario, M5G 2C4
Maral Ouzounian, MD, Maral.Ouzounian@uhn.ca
Australia1 site, 1 recruiting
- Recruiting
University of Sydney
Sydney, New South Wales, 2006
Richmond Jeremy, MD, richmond.jeremy@sydney.edu.au
Belgium1 site, 1 recruiting
- Recruiting
Ghent University Hospital (UZ Gent)
Ghent, East Flanders, 9000
Julie DeBacker, MD, Julie.DeBacker@UGent.be
Spain1 site, 1 recruiting
- Recruiting
Hospital Universitari Vall d'Hebron
Barcelona, Catalonia, 08035
Gisela Teixidó Tura, MD, gisela.teixido@vallhebron.cat
United Kingdom1 site, 1 recruiting
- Recruiting
Great Ormond Street Hospital
London, England, WC1N 3JH
Ella Cervi, MD, elena.cervi@nhs.net
About this 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.
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.
- Conditions
- Aortic Aneurysm, Aortic Dissection, Aortic Diseases
- Medical subject headings
- Aortic Aneurysm, Aortic Dissection, Aortic Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with causal mutations in the known H-TAD genes | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with aortic dissection
Aortic Dissection
Measured: 20 years
Number of participants with aortic aneurysm requiring repair
Aortic repair
Measured: 20 years
Number of participants who died due to an aortic dissection/rupture or postoperative complications
Mortality due to aortic disease
Measured: 20 years
Number of participants with aortic dilation
Aortic dilation
Measured: 20 years
Rate of aortic growth
Aortic diameter
Measured: 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.
Measured: 20 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jul 2019
- Study start15 Jun 2016
- Primary completion1 Jan 2037 (estimated)
- Study completion1 Jan 2037 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Aortic AneurysmStudies of the same condition, open and under way.
- More trials run by The University of Texas Health Science Center, HoustonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 5,000 participants (estimated)
- Target duration
- 20 Years
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Dianna M Milewicz, The University of Texas Health Science Center, Houston
- Investigators
- Dianna Milewicz, MD, PhD, Study director, UTHealth
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04005976
- Sponsor's protocol ID
- HSC-MS-16-0191
- Acronym
- MAC:H-TAD
- Status last verified
- Jan 2026
- First submitted
- 1 Jul 2019
- Last updated
- 2 Feb 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
- ClinicalTrials.gov ID
- NCT04005976
- Acronym / sponsor ID
- MAC:H-TAD / HSC-MS-16-0191
- Conditions
- Aortic Aneurysm, Aortic Dissection, Aortic Diseases
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- The University of Texas Health Science Center, HoustonUniversity, hospital or other
- Study start
- 15 Jun 2016 (actual)
- Primary completion
- 1 Jan 2037 (estimated)
- Study completion
- 1 Jan 2037 (estimated)
- First posted
- 2 Jul 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 20 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with causal mutations in the known H-TAD genes | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with a known mutation for H-TAD and their relatives who also carry the mutation
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (1 listed)
- Patients without a confirmed causative variant for H-TAD.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of participants with aortic dissection
Time frame: 20 years
Aortic Dissection
Number of participants with aortic aneurysm requiring repair
Time frame: 20 years
Aortic repair
Number of participants who died due to an aortic dissection/rupture or postoperative complications
Time frame: 20 years
Mortality due to aortic disease
Number of participants with aortic dilation
Time frame: 20 years
Aortic dilation
Rate of aortic growth
Time frame: 20 years
Aortic diameter
1 secondary outcome
Number of participants with other cardiovascular complications
Time frame: 20 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Feb 2026.
- Individual participant dataSharing planned: No
Related trials for Aortic Aneurysm
Not yet recruitingObservational study
Pilot Study on the Effectiveness and Safety of OPTILENE® SILVER MESH ELASTIC in Prevention of Surgical Site Infection (SSI) and Incisional Hernia (IH)
Abdominal Aortic Aneurysm, Morbid Obesity
Not yet recruitingObservational study
Clinical Health Outcomes Evaluation of Terumo Aortic Hybrid Devices
Aortic Aneurysm and Dissection
Recruiting
Treatment in Thoracic Aortic Aneurysm: Surgery vs Surveillance
Ascending Aortic Aneurysm Enlargement, Ascending Aorta Aneurysm
Recruiting
GORE® TAG® Thoracic Branch Endoprosthesis Zone 0/1 Post-Approval Study
Aortic Arch Dissection, Aortic Arch Aneurysm
RecruitingPhase 4
Effect of Remimazolam Versus Propofol Total Intravenous Anesthesia on Intraoperative Hemodynamic Stability in Patients Undergoing Thoracic or Abdominal Endovascular Aortic Repair
Aortic Aneurysm, Thoracoabdominal, Aortic Aneurysm, Abdominal
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Dianna Milewicz, MD, PhD study director
UTHealth
20 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Aortic Aneurysm and Aortic Dissection, run by The University of Texas Health Science Center, Houston at 20 sites in 6 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 2 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 20 sites in United States, Canada, Australia, Belgium, Spain and 1 more country. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Dianna M Milewicz, MD, PhD (713-500-6725, Dianna.M.Milewicz@uth.tmc.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants with aortic dissection (time frame: 20 years). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Feb 2026.