Precision medicine for heritable thoracic aortic disease
Official title: Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Run by The University of Texas Health Science Center, Houston · NCT04005976 · Data updated 2026-11-12
This study is trying to learn more about genetic factors in people with heritable thoracic aortic disease to help doctors better predict risks and manage their care.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 5000 (estimated) |
| Sponsor | The University of Texas Health Science Center, Houston Academic / other |
| Locations | 20 sites (Newport Beach, California and 19 other locations) |
| Status | Recruiting |
| Started | June 15, 2016 |
| Main results expected | January 1, 2037 |
| Study ends | January 1, 2037 |
| Registry record updated | February 2, 2026 |
| Trial ID | NCT04005976 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients and their relatives with confirmed pathogenic or likely pathogenic variants in specific H-TAD genes.
✕Probably not a fit
Patients without a confirmed causative variant for heritable thoracic aortic disease may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The Montalcino Aortic Consortium aims to gather large cohorts of patients with mutations in known heritable thoracic aortic disease (H-TAD) genes to better understand the associated phenotypes and identify genetic and environmental factors that influence these conditions. By employing both retrospective and prospective study designs, the consortium will characterize various stages of H-TAD and the complications linked to these genetic mutations. This comprehensive data collection will enhance the precision of risk predictions and improve clinical management for patients with genetically triggered vascular diseases.
Why it matters
Potential benefit: If successful, this study could lead to improved management and outcomes for patients with heritable thoracic aortic diseases.
How similar studies have gone: Other studies focusing on genetic factors in heritable diseases have shown promise, suggesting that this approach could yield valuable insights.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
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HOAG memorial hospital presbyterian
Newport Beach, California, United States Recruiting -
Hoag Memorial Hospital Presbyterian
Newport Beach, California, United States Recruiting -
Sutter Health
Sacramento, California, United States Recruiting -
University of Kentucky
Lexington, Kentucky, United States Recruiting -
Massachusetts General Hospital
Boston, Massachusetts, United States Recruiting -
University of Michigan
Ann Arbor, Michigan, United States Recruiting
Show 14 more locations
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Washington University in St. Louis
St Louis, Missouri, United States Recruiting -
University of Nebraska Medical Center
Omaha, Nebraska, United States Recruiting -
St. Francis Hospital (Catholic Health)
Roslyn, New York, United States Recruiting -
Oregon Health & Science University
Portland, Oregon, United States Recruiting -
Baylor College of Medicine
Houston, Texas, United States Recruiting -
Texas Children's Hospital
Houston, Texas, United States Recruiting -
The University of Texas Health Science Center at Houston
Houston, Texas, United States Recruiting -
Inova Health System
Falls Church, Virginia, United States Recruiting -
University of Sydney
Sydney, New South Wales, Australia Recruiting -
Ghent University Hospital (UZ Gent)
Ghent, East Flanders, Belgium Recruiting -
Foothills Medical Centre / Alberta Health Services
Calgary, Alberta, Canada Recruiting -
Toronto General Hospital (UHN)
Toronto, Ontario, Canada Recruiting -
Hospital Universitari Vall d'Hebron
Barcelona, Catalonia, Spain Recruiting -
Great Ormond Street Hospital
London, England, United Kingdom Recruiting
Study contacts
- Study coordinator: Dianna M Milewicz, MD, PhD
- Email: Dianna.M.Milewicz@uth.tmc.edu
- Phone: 713-500-6725
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Rapidlink device for repairing aortic arch branch vessels during open thoracic aorta surgery
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-
Evaluation of the NEXUS Aortic Arch Stent Graft System for treating aortic conditions
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Identifying biomarkers for aortic aneurysm and dissection
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Project to improve cardiovascular health through biobanking
This project is collecting blood samples and health information from people with heart diseases and healthy individuals to help researchers learn more about heart health and its genetic factors.
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Pregnancy-Related Aortic Dissection in China
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.