MAC:H-TAD: Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Study Details
Study Description
Brief Summary
The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with Heritable Thoracic Aortic Disease (H-TAD) with and without mutations in known H-TAD genes, define the phenotype associated with these genes, determine genetic and environmental modifiers of H-TAD, as well as rapidly and efficiently identify novel genes.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with H-TAD with and without mutations in known H-TAD genes, define the phenotype associated with these genes, determine genetic and environmental modifiers and other biomarkers of H-TAD, as well as rapidly and efficiently identify novel genes. 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
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Patients with heritable thoracic aortic disease (H-TAD) Patients with heritable thoracic aortic disease (H-TAD) with causal mutations in the known H-TAD genes. |
Outcome Measures
Primary Outcome Measures
- Number of participants with aortic dissection [20 years]
Aortic Dissection
- Number of participants with aortic aneurysm requiring repair [20 years]
Aortic repair
- Number of participants who died due to an aortic dissection/rupture or postoperative complications [20 years]
Mortality due to aortic disease
- Number of participants with aortic dilation [20 years]
Aortic dilation
- Rate of aortic growth [20 years]
Aortic diameter
Eligibility Criteria
Criteria
Inclusion Criteria:
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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).
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Patients of all ages, sex and race for which informed consent can be obtained.
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Patients with H-TAD without a known mutation, i.e., individuals with thoracic aortic disease and similarly affected relatives or patients with the onset of disease before the age of 30 years.
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Affected and unaffected relatives of patients with H-TAD without a known mutation.
Exclusion Criteria:
- No evidence of H-TAD.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | The University of Texas Health Science Center at Houston | Houston | Texas | United States | 77030 |
Sponsors and Collaborators
- The University of Texas Health Science Center, Houston
Investigators
- Study Director: Dianna Milewicz, MD, PhD, UTHealth
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- HSC-MS-16-0191