Precision medicine for heritable thoracic aortic disease
Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
The University of Texas Health Science Center, Houston · NCT04005976
This study is trying to learn more about genetic factors in people with heritable thoracic aortic disease to help doctors better predict risks and manage their care.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Sex | All |
| Sponsor | The University of Texas Health Science Center, Houston (other) |
| Locations | 20 sites (Newport Beach, California and 19 other locations) |
| Trial ID | NCT04005976 on ClinicalTrials.gov |
What this trial studies
The Montalcino Aortic Consortium aims to gather large cohorts of patients with mutations in known heritable thoracic aortic disease (H-TAD) genes to better understand the associated phenotypes and identify genetic and environmental factors that influence these conditions. By employing both retrospective and prospective study designs, the consortium will characterize various stages of H-TAD and the complications linked to these genetic mutations. This comprehensive data collection will enhance the precision of risk predictions and improve clinical management for patients with genetically triggered vascular diseases.
Who should consider this trial
Good fit: Ideal candidates include patients and their relatives with confirmed pathogenic or likely pathogenic variants in specific H-TAD genes.
Not a fit: Patients without a confirmed causative variant for heritable thoracic aortic disease may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved management and outcomes for patients with heritable thoracic aortic diseases.
How similar studies have performed: Other studies focusing on genetic factors in heritable diseases have shown promise, suggesting that this approach could yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion 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. Exclusion Criteria: * Patients without a confirmed causative variant for H-TAD.
Where this trial is running
Newport Beach, California and 19 other locations
- HOAG memorial hospital presbyterian — Newport Beach, California, United States (RECRUITING)
- Hoag Memorial Hospital Presbyterian — Newport Beach, California, United States (RECRUITING)
- Sutter Health — Sacramento, California, United States (RECRUITING)
- University of Kentucky — Lexington, Kentucky, United States (RECRUITING)
- Massachusetts General Hospital — Boston, Massachusetts, United States (RECRUITING)
- University of Michigan — Ann Arbor, Michigan, United States (RECRUITING)
- Washington University in St. Louis — St Louis, Missouri, United States (RECRUITING)
- University of Nebraska Medical Center — Omaha, Nebraska, United States (RECRUITING)
- St. Francis Hospital (Catholic Health) — Roslyn, New York, United States (RECRUITING)
- Oregon Health & Science University — Portland, Oregon, United States (RECRUITING)
- Baylor College of Medicine — Houston, Texas, United States (RECRUITING)
- Texas Children's Hospital — Houston, Texas, United States (RECRUITING)
- The University of Texas Health Science Center at Houston — Houston, Texas, United States (RECRUITING)
- Inova Health System — Falls Church, Virginia, United States (RECRUITING)
- University of Sydney — Sydney, New South Wales, Australia (RECRUITING)
- Ghent University Hospital (UZ Gent) — Ghent, East Flanders, Belgium (RECRUITING)
- Foothills Medical Centre / Alberta Health Services — Calgary, Alberta, Canada (RECRUITING)
- Toronto General Hospital (UHN) — Toronto, Ontario, Canada (RECRUITING)
- Hospital Universitari Vall d'Hebron — Barcelona, Catalonia, Spain (RECRUITING)
- Great Ormond Street Hospital — London, England, United Kingdom (RECRUITING)
Study contacts
- Study coordinator: Dianna M Milewicz, MD, PhD
- Email: Dianna.M.Milewicz@uth.tmc.edu
- Phone: 713-500-6725
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Aortic Aneurysm, Aortic Dissection, Aortic Diseases