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Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

The University of Texas Health Science Center, Houston · NCT04005976

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Any age listed · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
5000
US sites recruiting
14
Study start
June 15, 2016
Record last updated
February 2, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full 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.

Recruiting US locations

  • HOAG memorial hospital presbyterian

    Newport Beach, CA 92663

    Site contact: Site Investigator · 949-650-3350

  • Hoag Memorial Hospital Presbyterian

    Newport Beach, CA 92663

    Site contact: Chelsey Torres, MD · Chelsey.torres@hoag.org

  • Sutter Health

    Sacramento, CA 95816

    Site contact: Matthew Solomon, MD · matthew.solomon2@sutterhealth.org

  • University of Kentucky

    Lexington, KY 40536

    Site contact: Mary Sheppard · mary.sheppard@uky.edu

  • Massachusetts General Hospital

    Boston, MA 02114

    Site contact: Mark Lindsay, MD · Lindsay.Mark@mgh.harvard.edu

  • University of Michigan

    Ann Arbor, MI 48109

    Site contact: Marion Hofmann, MD · mhofmann@med.umich.edu

  • Washington University in St. Louis

    St Louis, MO 63110

    Site contact: Leslie Boyer · leslieboyer@wustl.edu

  • University of Nebraska Medical Center

    Omaha, NE 68198

    Site contact: Kelly Erickson · kelly.erickson@unmc.edu

  • St. Francis Hospital (Catholic Health)

    Roslyn, NY 11576

    Site contact: Timothy Carter · timothy.carter@chsli.org

  • Oregon Health & Science University

    Portland, OR 97239

    Site contact: Sherene Shalhub, MD · shalhub@ohsu.edu

  • Baylor College of Medicine

    Houston, TX 77030

    Site contact: Ginger Etheridge · Ginger.Etheridge@bcm.edu

  • Texas Children's Hospital

    Houston, TX 77030

    Site contact: Shaine Morris, MD · shainem@bcm.edu

  • The University of Texas Health Science Center at Houston

    Houston, TX 77030

    Site contact: Program Manager · 713-500-7386

  • Inova Health System

    Falls Church, VA 22042

    Site contact: Christopher Jordan, MD · Christopher.Jordan@inova.org

Study contacts (from the official record)

  • 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
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Montalcino Aortic Consortium: Precision Medicine for Heritable… (NCT04005976) | Bored Studies