Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Key facts
- Where
- Ann Arbor, Boston, Falls Church, Houston, Lexington, Newport Beach, Omaha, Portland, Roslyn, Sacramento, and St Louis, United StatesSee the 13 sites
Where in United States
- 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
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorTrial details
- Who runs it
- The University of Texas Health Science Center, Houston
- Trial code
- NCT04005976
- Record updated
- 2 February 2026
- Original description
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.Read full original descriptionShow less
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.
Inclusion: 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: Patients without a confirmed causative variant for H-TAD.