RecruitingNCT04005976
Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Sponsor
The University of Texas Health Science Center, Houston
Enrollment
5,000 participants
Start Date
Jun 15, 2016
Study Type
OBSERVATIONAL
Conditions
Summary
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
Inclusion Criteria2
- 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 Criteria1
- Patients without a confirmed causative variant for H-TAD.
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Locations(20)
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NCT04005976
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