Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Status: Recruiting
Location: See location...
Study Type: Observational
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
Participation Requirements
Sex: All
Healthy Volunteers: t
View:
• 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.
Locations
United States
Texas
The University of Texas Health Science Center at Houston
RECRUITING
Houston
Contact Information
Primary
Study Director
713-500-6715
Backup
Program Manager
713-500-7386
Time Frame
Start Date: 2016-04-29
Estimated Completion Date: 2037-01-01
Participants
Target number of participants: 5000
Treatments
Patients with causal mutations in the known H-TAD genes
Related Therapeutic Areas
Sponsors
Leads: The University of Texas Health Science Center, Houston