NCT04005976

Brief 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.

Trial Health

83
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
5,000

participants targeted

Target at P75+ for all trials

Timeline
128mo left

Started Jun 2016

Longer than P75 for all trials

Geographic Reach
6 countries

20 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress49%
Jun 2016Jan 2037

Study Start

First participant enrolled

June 15, 2016

Completed
3 years until next milestone

First Submitted

Initial submission to the registry

July 1, 2019

Completed
1 day until next milestone

First Posted

Study publicly available on registry

July 2, 2019

Completed
17.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2037

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2037

Last Updated

February 2, 2026

Status Verified

January 1, 2026

Enrollment Period

20.6 years

First QC Date

July 1, 2019

Last Update Submit

January 29, 2026

Conditions

Aortic AneurysmAortic DiseasesAortic Dissection

Outcome Measures

Primary Outcomes (5)

  • Number of participants with aortic dissection

    Aortic Dissection

    20 years

  • Number of participants with aortic aneurysm requiring repair

    Aortic repair

    20 years

  • Number of participants who died due to an aortic dissection/rupture or postoperative complications

    Mortality due to aortic disease

    20 years

  • Number of participants with aortic dilation

    Aortic dilation

    20 years

  • Rate of aortic growth

    Aortic diameter

    20 years

Secondary Outcomes (1)

  • Number of participants with other cardiovascular complications

    20 years

Study Arms (1)

Patients with causal mutations in the known H-TAD genes

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Individuals with a known mutation for H-TAD and their relatives who also carry the mutation

You may qualify if:

  • 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.

You may not qualify if:

  • Patients without a confirmed causative variant for H-TAD.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (20)

HOAG memorial hospital presbyterian

Newport Beach, California, 92663, United States

RECRUITING

Hoag Memorial Hospital Presbyterian

Newport Beach, California, 92663, United States

RECRUITING

Sutter Health

Sacramento, California, 95816, United States

RECRUITING

University of Kentucky

Lexington, Kentucky, 40536, United States

RECRUITING

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

RECRUITING

University of Michigan

Ann Arbor, Michigan, 48109, United States

RECRUITING

Washington University in St. Louis

St Louis, Missouri, 63110, United States

RECRUITING

University of Nebraska Medical Center

Omaha, Nebraska, 68198, United States

RECRUITING

St. Francis Hospital (Catholic Health)

Roslyn, New York, 11576, United States

RECRUITING

Oregon Health & Science University

Portland, Oregon, 97239, United States

RECRUITING

Baylor College of Medicine

Houston, Texas, 77030, United States

RECRUITING

Texas Children's Hospital

Houston, Texas, 77030, United States

RECRUITING

The University of Texas Health Science Center at Houston

Houston, Texas, 77030, United States

RECRUITING

Inova Health System

Falls Church, Virginia, 22042, United States

RECRUITING

University of Sydney

Sydney, New South Wales, 2006, Australia

RECRUITING

Ghent University Hospital (UZ Gent)

Ghent, East Flanders, 9000, Belgium

RECRUITING

Foothills Medical Centre / Alberta Health Services

Calgary, Alberta, T2N 2T9, Canada

RECRUITING

Toronto General Hospital (UHN)

Toronto, Ontario, M5G 2C4, Canada

RECRUITING

Hospital Universitari Vall d'Hebron

Barcelona, Catalonia, 08035, Spain

RECRUITING

Great Ormond Street Hospital

London, England, WC1N 3JH, United Kingdom

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

DNA extracted from saliva or blood specimens

MeSH Terms

Conditions

Aortic AneurysmAortic DissectionAortic Diseases

Condition Hierarchy (Ancestors)

AneurysmVascular DiseasesCardiovascular DiseasesDissection, Blood VesselAcute Aortic Syndrome

Study Officials

  • Dianna Milewicz, MD, PhD

    UTHealth

    STUDY DIRECTOR

Central Study Contacts

Dianna M Milewicz, MD, PhD

CONTACT

713-500-6725Dianna.M.Milewicz@uth.tmc.edu

Ernesto Calderon Martinez, MD

CONTACT

(713) 500-6715Ernesto.CalderonMartinez@uth.tmc.edu

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Target Duration
20 Years
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor and President George Bush Chair In Cardiovascular Medicine

Study Record Dates

First Submitted

July 1, 2019

First Posted

July 2, 2019

Study Start

June 15, 2016

Primary Completion (Estimated)

January 1, 2037

Study Completion (Estimated)

January 1, 2037

Last Updated

February 2, 2026

Record last verified: 2026-01

Data Sharing

IPD Sharing
Will not share

Locations

US(14)ES(1)CA(2)AU(1)BE(1)GB(1)