RecruitingNCT04005976

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease


Sponsor

The University of Texas Health Science Center, Houston

Enrollment

5,000 participants

Start Date

Jun 15, 2016

Study Type

OBSERVATIONAL

Conditions

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

Inclusion Criteria2

  • 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 Criteria1

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

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Locations(20)

HOAG memorial hospital presbyterian

Newport Beach, California, United States

Hoag Memorial Hospital Presbyterian

Newport Beach, California, United States

Sutter Health

Sacramento, California, United States

University of Kentucky

Lexington, Kentucky, United States

Massachusetts General Hospital

Boston, Massachusetts, United States

University of Michigan

Ann Arbor, Michigan, United States

Washington University in St. Louis

St Louis, Missouri, United States

University of Nebraska Medical Center

Omaha, Nebraska, United States

St. Francis Hospital (Catholic Health)

Roslyn, New York, United States

Oregon Health & Science University

Portland, Oregon, United States

Baylor College of Medicine

Houston, Texas, United States

Texas Children's Hospital

Houston, Texas, United States

The University of Texas Health Science Center at Houston

Houston, Texas, United States

Inova Health System

Falls Church, Virginia, United States

University of Sydney

Sydney, New South Wales, Australia

Ghent University Hospital (UZ Gent)

Ghent, East Flanders, Belgium

Foothills Medical Centre / Alberta Health Services

Calgary, Alberta, Canada

Toronto General Hospital (UHN)

Toronto, Ontario, Canada

Hospital Universitari Vall d'Hebron

Barcelona, Catalonia, Spain

Great Ormond Street Hospital

London, England, United Kingdom

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NCT04005976


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