Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Aortic Aneurysm Clinical Trial

— MAC:H-TAD  

Official title:

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04005976
• Other study ID #: HSC-MS-16-0191
• Status: Recruiting
• Start date: April 29, 2016
• Est. completion date: January 1, 2037

Study information

• Verified date: May 2023
• Source: The University of Texas Health Science Center, Houston
• Contact: Study Director
• Phone: 713-500-6715
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 5000
• Est. completion date: January 1, 2037
• Est. primary completion date: January 1, 2037
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Aneurysm
• Aneurysm, Dissecting
• Aortic Aneurysm
• Aortic Diseases
• Aortic Dissection

Locations

Country	Name	City	State
United States	The University of Texas Health Science Center at Houston	Houston	Texas

Sponsors (1)

Lead Sponsor	Collaborator
The University of Texas Health Science Center, Houston

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of participants with aortic dissection	Aortic Dissection	20 years
Primary	Number of participants with aortic aneurysm requiring repair	Aortic repair	20 years
Primary	Number of participants who died due to an aortic dissection/rupture or postoperative complications	Mortality due to aortic disease	20 years
Primary	Number of participants with aortic dilation	Aortic dilation	20 years
Primary	Rate of aortic growth	Aortic diameter	20 years