Recruiting

Precision MedicineMontalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Sponsor:

The University of Texas Health Science Center, Houston

Code:

NCT04005976

Conditions

Aortic Aneurysm

Aortic Dissection

Aortic Diseases

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

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.

Conditions

Aortic Aneurysm

Aortic Dissection

Aortic Diseases

Study ID

NCT04005976

Start date

Jun 15, 2016

Status verified date

Jan, 2026

Completion date

Jan 1, 2037

Anticipated

Primary completion date

Jan 1, 2037

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

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.

Study Design

Enrollment

5000 participants

Anticipated

Interventions and Outcome Measures

Arms

Patients with causal mutations in the known H-TAD genes

Primary outcome measure

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 ]

Central Contacts and Locations

Central contacts

Dianna M Milewicz, MD, PhD

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

Ernesto Calderon Martinez, MD

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

Locations

HOAG memorial hospital presbyterian

Recruiting

Newport Beach, California, United States, 92663

Contacts

Site Investigator

949-650-3350

Rita Weise, MSN, NP, ACNPC-AG

949-650-3350

Hoag Memorial Hospital Presbyterian

Recruiting

Newport Beach, California, United States, 92663

Contacts

Chelsey Torres, MD

Chelsey.torres@hoag.org

Sutter Health

Recruiting

Sacramento, California, United States, 95816

Contacts

Matthew Solomon, MD

matthew.solomon2@sutterhealth.org

University of Kentucky

Recruiting

Lexington, Kentucky, United States, 40536

Contacts

Mary Sheppard

mary.sheppard@uky.edu

Massachusetts General Hospital

Recruiting

Boston, Massachusetts, United States, 02114

Contacts

Mark Lindsay, MD

Lindsay.Mark@mgh.harvard.edu

University of Michigan

Recruiting

Ann Arbor, Michigan, United States, 48109

Contacts

Marion Hofmann, MD

mhofmann@med.umich.edu

Washington University in St. Louis

Recruiting

St Louis, Missouri, United States, 63110

Contacts

Leslie Boyer

leslieboyer@wustl.edu

University of Nebraska Medical Center

Recruiting

Omaha, Nebraska, United States, 68198

Contacts

Kelly Erickson

kelly.erickson@unmc.edu

St. Francis Hospital (Catholic Health)

Recruiting

Roslyn, New York, United States, 11576

Contacts

Timothy Carter

timothy.carter@chsli.org

Oregon Health & Science University

Recruiting

Portland, Oregon, United States, 97239

Contacts

Sherene Shalhub, MD

shalhub@ohsu.edu

Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030

Contacts

Ginger Etheridge

Ginger.Etheridge@bcm.edu

Texas Children's Hospital

Recruiting

Houston, Texas, United States, 77030

Contacts

Shaine Morris, MD

shainem@bcm.edu

The University of Texas Health Science Center at Houston

Recruiting

Houston, Texas, United States, 77030

Contacts

Program Manager

713-500-7386

Inova Health System

Recruiting

Falls Church, Virginia, United States, 22042

Contacts

Christopher Jordan, MD

Christopher.Jordan@inova.org

Foothills Medical Centre / Alberta Health Services

Recruiting

Calgary, Alberta, Canada, T2N 2T9

Contacts

Julien Marcadier, MD

julien.marcadier@ahs.ca

Toronto General Hospital (UHN)

Recruiting

Toronto, Ontario, Canada, M5G 2C4

Contacts

Maral Ouzounian, MD

Maral.Ouzounian@uhn.ca

More Information

Sponsor

The University of Texas Health Science Center, Houston

Last update posted

Feb 2, 2026

Last verified

Jan, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by The University of Texas Health Science Center, Houston on 2026-02-02.