Montalcino Aortic Consortium
Research type
Research Study
Full title
Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
IRAS ID
253860
Contact name
Elena Cervi
Contact email
Sponsor organisation
Univeristy of Texas
Duration of Study in the UK
19 years, 11 months, 31 days
Research summary
Heritable thoracic aortic disease is caused by a mutation in one of the genes involved in maintaining the structure of blood vessel walls. The major diseases affecting the thoracic aorta are aortic aneurysms and acute aortic dissections. Thoracic aortic aneurysms are areas of ballooning in the aortic wall, which enlarge over time until they result in tearing of the aortic wall (dissection) and aortic rupture. Dissection of the ascending aorta can cause sudden death in up to 40% of individuals, and survivors of acute events have a 1% per hour death rate without emergency surgical repair.
Many aspects of vascular disease management in heritable aortic disease remain unclear. Medical decisions regarding the frequency of aortic surveillance, necessity of additional vascular imaging, and timing of surgical repair are often based on few reports involving small numbers of patients. Studies examining the clinical course of genetically-triggered aortic diseases and effective prevention strategies are lacking.
The Montalcino Aortic Consortium will provide the infrastructure to assemble large cohorts of patients with heritable thoracic aortic disease, define the clinical phenotype associated with different genes and determine genetic and environmental modifiers of these conditions. Recruitment of large numbers of patients world-wide will improve the precision of data used to predict disease risks. Anonymised patient data gathered from routine clinical investigations will be submitted to the secure online study database with the informed consent of participants. Data from Montalcino Aortic Consortium will provide the critical clinical information for precise management of thoracic aortic disease and will improve medical management and outcomes for patients.REC name
London - Queen Square Research Ethics Committee
REC reference
19/LO/0759
Date of REC Opinion
11 Jul 2019
REC opinion
Further Information Favourable Opinion