Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

NCT04005976 · tracked via the Priya Life Science Spain tracker

Sponsor

The University of Texas Health Science Center, Houston

Phase

Observational

Started

2016-06-15

Last updated

2026-02-02

Condition(s) studied

Aortic AneurysmAortic DissectionAortic Diseases

Study 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.

Eligibility

Sex

ALL

Min age

—

Max age

—

Healthy volunteers

Accepted

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.

Primary outcome measure(s)

Number of participants with aortic dissection — 20 years
Aortic Dissection
Number of participants with aortic aneurysm requiring repair — 20 years
Aortic repair
Number of participants who died due to an aortic dissection/rupture or postoperative complications — 20 years
Mortality due to aortic disease
Number of participants with aortic dilation — 20 years
Aortic dilation
Rate of aortic growth — 20 years
Aortic diameter

Trial sites (20)

Facility	City	Region	Status
HOAG memorial hospital presbyterian	Newport Beach	California	Recruiting
Hoag Memorial Hospital Presbyterian	Newport Beach	California	Recruiting
Sutter Health	Sacramento	California	Recruiting
University of Kentucky	Lexington	Kentucky	Recruiting
Massachusetts General Hospital	Boston	Massachusetts	Recruiting
University of Michigan	Ann Arbor	Michigan	Recruiting
Washington University in St. Louis	St Louis	Missouri	Recruiting
University of Nebraska Medical Center	Omaha	Nebraska	Recruiting
St. Francis Hospital (Catholic Health)	Roslyn	New York	Recruiting
Oregon Health & Science University	Portland	Oregon	Recruiting
Baylor College of Medicine	Houston	Texas	Recruiting
Texas Children's Hospital	Houston	Texas	Recruiting
The University of Texas Health Science Center at Houston	Houston	Texas	Recruiting
Inova Health System	Falls Church	Virginia	Recruiting
University of Sydney	Sydney	New South Wales	Recruiting
Ghent University Hospital (UZ Gent)	Ghent	East Flanders	Recruiting
Foothills Medical Centre / Alberta Health Services	Calgary	Alberta	Recruiting
Toronto General Hospital (UHN)	Toronto	Ontario	Recruiting
Hospital Universitari Vall d'Hebron	Barcelona	Catalonia	Recruiting
Great Ormond Street Hospital	London	England	Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04005976 on ClinicalTrials.gov ↗ ← All trials in Spain