Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Aortic Aneurysm, Aortic Dissection, Aortic Diseases. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Australia, Belgium, Canada, Spain +1
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Primary outcome measures
- Number of participants with aortic dissection [Time frame: 20 years]
- Number of participants with aortic aneurysm requiring repair [Time frame: 20 years]
- Number of participants who died due to an aortic dissection/rupture or postoperative complications [Time frame: 20 years]
- Number of participants with aortic dilation [Time frame: 20 years]
- Rate of aortic growth [Time frame: 20 years]
Secondary outcome measures (1)
- Number of participants with other cardiovascular complications [Time frame: 20 years]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
United States · 14 centers
- HOAG memorial hospital presbyterian — Newport Beach
- Hoag Memorial Hospital Presbyterian — Newport Beach
- Sutter Health — Sacramento
- University of Kentucky — Lexington
- Massachusetts General Hospital — Boston
- University of Michigan — Ann Arbor
- Washington University in St. Louis — St Louis
- University of Nebraska Medical Center — Omaha
- … and 6 more centers
Canada · 2 centers
- Foothills Medical Centre / Alberta Health Services — Calgary
- Toronto General Hospital (UHN) — Toronto
Australia · 1 center
- University of Sydney — Sydney
Belgium · 1 center
- Ghent University Hospital (UZ Gent) — Ghent
Spain · 1 center
- Hospital Universitari Vall d'Hebron — Barcelona
United Kingdom · 1 center
- Great Ormond Street Hospital — London
Identifiers
NCT: NCT04005976 · HSC-MS-16-0191