Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorThe University of Texas Health Science Center, Houston
About this trial
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 criteria
Qualifiers
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.
Disqualifiers
Patients without a confirmed causative variant for H-TAD.
Trial design
Treatments tested in this trial
- Not listed
Trial groups
5,000 Participants
are grouped into 1 trial groupSponsors and collaborators
Source ClinicalTrials.gov