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Gathering people with inherited aortic disease to study genes and other influences

Studies people with inherited thoracic aortic disease gene changes and what shapes their condition.

Key facts

Who runs it
The University of Texas Health Science Center, Houston
Where
Ann Arbor, Boston, Falls Church, Houston, Lexington, Newport Beach, Omaha, Portland, Roslyn, Sacramento, and St Louis, United StatesSee the 13 sitesAlso in 5 other countries, 6 sites
Trial code
Registry title
Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Status
Recruiting
People taking part
5,000 people, planned
Started
15 Jun 2016
Expected to end
1 Jan 2037
Type of study
Observational
Record updated
2 February 2026

Who can take part

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for patients and their relatives who carry a gene change in a known gene linked to inherited disease of the main chest artery (aorta).

Age
All ages.
Sex
All sexes.
Disease stage
Inherited disease of the aorta in the chest (H-TAD), such as a widening (aneurysm) or a tear (dissection).
Biomarker or test result
A confirmed pathogenic, likely pathogenic, or unknown-significance variant in at least one H-TAD gene: TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, ACTA2, MYH11, MYLK, PRKG1, MAT2A, MFAP5, LOX, COL3A1, FOXE3, or FBN1.

Main reasons for not taking part

  • People without a confirmed gene change that causes H-TAD cannot join.
  • People who cannot give informed consent cannot join.

The registry criteria, word for word

Show all 3 criteriaShow less

Who can take part

  • 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

Who cannot take part

  • Patients without a confirmed causative variant for H-TAD

Where in United States

Also in 5 other countries, 6 sites

  • University of MichiganAnn Arbor, United StatesContact: Marion Hofmann, MDTaking people
  • Massachusetts General HospitalBoston, United StatesContact: Mark Lindsay, MDTaking people
  • Inova Health SystemFalls Church, United StatesContact: Christopher Jordan, MDTaking people
  • Baylor College of MedicineHouston, United StatesContact: Ginger EtheridgeTaking people
  • Texas Children's HospitalHouston, United StatesContact: Shaine Morris, MDTaking people
  • The University of Texas Health Science Center at HoustonHouston, United StatesContact: Program ManagerTaking people
  • University of KentuckyLexington, United StatesContact: Mary SheppardTaking people
  • Hoag Memorial Hospital PresbyterianNewport Beach, United StatesContact: Site InvestigatorTaking people
  • University of Nebraska Medical CenterOmaha, United StatesContact: Kelly EricksonTaking people
  • Oregon Health Science UniversityPortland, United StatesContact: Sherene Shalhub, MDTaking people
  • St. Francis Hospital (Catholic Health)Roslyn, United StatesContact: Timothy CarterTaking people
  • Sutter HealthSacramento, United StatesContact: Matthew Solomon, MDTaking people
  • Washington University in St. LouisSt Louis, United StatesContact: Leslie BoyerTaking people

About the trial

What the trial wants to find out

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.

The group in the trial

  • Patients with causal mutations in the known H-TAD genes

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Official title
Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Plain-language title
Gathering people with inherited aortic disease to study genes and other influencesGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 14 November 2026.
Record updated
2 February 2026