Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Key facts
- Where
- Barcelona, SpainSee the site
Where in Spain
- Hospital Universitari Vall d'HebronBarcelona, SpainContact: Gisela Teixidó Tura, MDTaking 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.