Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

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.

Conditions

Aortic Aneurysm, Aortic Dissection, Aortic Diseases

Study Overview

Study Details

Study overview

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.

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Condition
Aortic Aneurysm
Intervention / Treatment

-

Contacts and Locations

Houston

The University of Texas Health Science Center at Houston, Houston, Texas, United States, 77030

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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.
  • * Patients without a confirmed causative variant for H-TAD.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

The University of Texas Health Science Center, Houston,

Dianna Milewicz, MD, PhD, STUDY_DIRECTOR, UTHealth

Study Record Dates

2037-01-01