Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Status: Recruiting
Location: See all (20) locations...
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
California
Hoag Memorial Hospital Presbyterian
RECRUITING
Newport Beach
HOAG memorial hospital presbyterian
RECRUITING
Newport Beach
Sutter Health
RECRUITING
Sacramento
Kentucky
University of Kentucky
RECRUITING
Lexington
Massachusetts
Massachusetts General Hospital
RECRUITING
Boston
Michigan
University of Michigan
RECRUITING
Ann Arbor
Missouri
Washington University in St. Louis
RECRUITING
St Louis
Nebraska
University of Nebraska Medical Center
RECRUITING
Omaha
New York
St. Francis Hospital (Catholic Health)
RECRUITING
Roslyn
Oregon
Oregon Health & Science University
RECRUITING
Portland
Texas
Baylor College of Medicine
RECRUITING
Houston
Texas Children's Hospital
RECRUITING
Houston
The University of Texas Health Science Center at Houston
RECRUITING
Houston
Virginia
Inova Health System
RECRUITING
Falls Church
Other Locations
Australia
University of Sydney
RECRUITING
Sydney
Belgium
Ghent University Hospital (UZ Gent)
RECRUITING
Ghent
Canada
Foothills Medical Centre / Alberta Health Services
RECRUITING
Calgary
Toronto General Hospital (UHN)
RECRUITING
Toronto
Spain
Hospital Universitari Vall d'Hebron
RECRUITING
Barcelona
United Kingdom
Great Ormond Street Hospital
RECRUITING
London
Contact Information
Primary
Dianna M Milewicz, MD, PhD
Dianna.M.Milewicz@uth.tmc.edu
713-500-6725
Backup
Ernesto Calderon Martinez, MD
Ernesto.CalderonMartinez@uth.tmc.edu
(713) 500-6715
Time Frame
Start Date: 2016-06-15
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