Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

5000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-04-29

Study Completion Date

2037-01-01

Brief Summary

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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.

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Detailed Description

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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

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Aortic Aneurysm Aortic Dissection Aortic Diseases

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

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Patients with causal mutations in the known H-TAD genes

No interventions assigned to this group

Eligibility Criteria

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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.