- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04005976
Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease (MAC:H-TAD)
May 9, 2023 updated by: Dianna M Milewicz, The University of Texas Health Science Center, Houston
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.
Study Overview
Status
Recruiting
Conditions
Detailed Description
The MAC will provide the infrastructure to assemble large cohorts of patients with mutations in known H-TAD genes, define the phenotype associated with these genes, and determine genetic and environmental modifiers and other biomarkers of H-TAD.
Recruitment of large numbers of patients world-wide will improve the precision of data used to predict disease risks.
Retrospective and prospective study designs will be used to fully characterize the different stages of H-TAD (i.e.
susceptibility, presymptomatic, and symptomatic) and other complications associated with the H-TAD genes, and examine clinical and environmental factors that define risk of aortic dissections.
The data from MAC will provide the critical clinical information for precise management of thoracic aortic disease and other complications caused by mutations of these genes and improve the medical management and outcome of patients with genetically triggered, lethal vascular diseases.
Study Type
Observational
Enrollment (Anticipated)
5000
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Study Director
- Phone Number: 713-500-6715
Study Contact Backup
- Name: Program Manager
- Phone Number: 713-500-7386
Study Locations
-
-
Texas
-
Houston, Texas, United States, 77030
- Recruiting
- The University of Texas Health Science Center at Houston
-
Contact:
- Program Manager
- Phone Number: 713-500-7386
-
-
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.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Yes
Sampling Method
Non-Probability Sample
Study Population
Individuals with a known mutation for H-TAD and their relatives who also carry the mutation
Description
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.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
---|
Patients with causal mutations in the known H-TAD genes
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Number of participants with aortic dissection
Time Frame: 20 years
|
Aortic Dissection
|
20 years
|
Number of participants with aortic aneurysm requiring repair
Time Frame: 20 years
|
Aortic repair
|
20 years
|
Number of participants who died due to an aortic dissection/rupture or postoperative complications
Time Frame: 20 years
|
Mortality due to aortic disease
|
20 years
|
Number of participants with aortic dilation
Time Frame: 20 years
|
Aortic dilation
|
20 years
|
Rate of aortic growth
Time Frame: 20 years
|
Aortic diameter
|
20 years
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Investigators
- Study Director: Dianna Milewicz, MD, PhD, UTHealth
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
April 29, 2016
Primary Completion (Anticipated)
January 1, 2037
Study Completion (Anticipated)
January 1, 2037
Study Registration Dates
First Submitted
July 1, 2019
First Submitted That Met QC Criteria
July 1, 2019
First Posted (Actual)
July 2, 2019
Study Record Updates
Last Update Posted (Estimate)
May 11, 2023
Last Update Submitted That Met QC Criteria
May 9, 2023
Last Verified
May 1, 2023
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- HSC-MS-16-0191
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Aortic Aneurysm
-
University of BolognaCompletedThoracoabdominal Aortic Aneurysm | Ruptured Thoracic Aneurysm | Ruptured Aortic Aneurysm | Thoracoabdominal Aortic Aneurysm, RupturedItaly
-
Baptist Health South FloridaWilliam Cook AustraliaRecruitingThoracoabdominal Aortic Aneurysm | Aortic Arch AneurysmUnited States
-
University of California, San DiegoRecruitingJuxtarenal Aortic Aneurysm | Thoracoabdominal Aortic Aneurysm | Pararenal Aortic Aneurysm | Complex Abdominal Aortic AneurysmUnited States
-
Gustavo OderichWilliam Cook AustraliaRecruitingThoracoabdominal Aortic Aneurysm | Aortic Arch Aneurysm | Complex Abdominal Aortic Aneurysm | Aortic Arch DissectionUnited States
-
University of South FloridaMedtronic; Sanford HealthActive, not recruiting
-
University of North Carolina, Chapel HillCook Group Incorporated; UNC HospitalsEnrolling by invitationAortic Aneurysm, Abdominal | Aortic Arch Aneurysm | Ascending Aorta AneurysmUnited States
-
Karolinska University HospitalEnrolling by invitationAneurysm | Aortic Aneurysm | Abdominal Aortic Aneurysm, Ruptured | Aneurysm Abdominal | Abdominal Aortic Aneurysm Without RuptureSweden
-
Cook Research IncorporatedRecruitingThoracoabdominal Aortic Aneurysm | Aortic Arch Aneurysm | Complex Abdominal Aortic Aneurysm | Chronic Aortic DissectionDenmark, France, Germany
-
W.L.Gore & AssociatesRecruitingThoracic Aortic Aneurysm | Abdominal Aortic AneurysmSpain, Denmark, Italy, Norway, Netherlands, Sweden
-
JOTEC GmbHRecruiting