Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Recruiting now

Conditions studied: Aortic Aneurysm, Aortic Dissection, Aortic Diseases

In brief

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.

Key facts

Study ID

NCT04005976

Run by

The University of Texas Health Science Center, Houston

People needed

5000

Starts

2016-06-15

Expected to finish

2037-01-01

Last updated by the study team

2026-02-02

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

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.

Where it is running

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

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.