NCT04005976

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 5,000 (estimated)
• Sponsor: The University of Texas Health Science Center, Houston · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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.

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

Timeline

• Start date: 2016-06-15
• Primary completion: 2037-01-01
• Completion: 2037-01-01
• First posted: 2019-07-02
• Last updated: 2026-02-02

Locations

20 sites across 6 countries: United States, Australia, Belgium, Canada, Spain, United Kingdom