Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease (MAC:H-TAD)

The University of Texas System (UT)

Status: Enrolling

Conditions: Aortic Aneurysm; Aortic Dissection; Aortic Diseases

Study type: Observational

Funder types: Other

Identifiers

NCT04005976

HSC-MS-16-0191

Details and patient eligibility

About

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.

Full 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.

Enrollment: 5,000 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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.

Trial design

5,000 participants in 1 patient group

Patients with causal mutations in the known H-TAD genes