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Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease (MAC:H-TAD)

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ClinicalTrials.gov Identifier: NCT04005976
Recruitment Status : Recruiting
First Posted : July 2, 2019
Last Update Posted : July 2, 2019
Sponsor:
Information provided by (Responsible Party):
Dianna M Milewicz, The University of Texas Health Science Center, Houston

Brief Summary:
The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with Heritable Thoracic Aortic Disease (H-TAD) with and without mutations in known H-TAD genes, define the phenotype associated with these genes, determine genetic and environmental modifiers of H-TAD, as well as rapidly and efficiently identify novel genes.

Condition or disease
Aortic Aneurysm Aortic Dissection Aortic Diseases

Detailed Description:
The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with H-TAD with and without mutations in known H-TAD genes, define the phenotype associated with these genes, determine genetic and environmental modifiers and other biomarkers of H-TAD, as well as rapidly and efficiently identify novel genes. 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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 5000 participants
Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration: 20 Years
Official Title: Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Actual Study Start Date : April 29, 2016
Estimated Primary Completion Date : January 1, 2037
Estimated Study Completion Date : January 1, 2037

Group/Cohort
Patients with heritable thoracic aortic disease (H-TAD)
Patients with heritable thoracic aortic disease (H-TAD) with causal mutations in the known H-TAD genes.



Primary Outcome Measures :
  1. Number of participants with aortic dissection [ Time Frame: 20 years ]
  2. Number of participants with aortic aneurysm requiring repair [ Time Frame: 20 years ]
  3. Number of participants who died due to an aortic dissection/rupture or postoperative complications [ Time Frame: 20 years ]
  4. Number of participants with aortic dilation [ Time Frame: 20 years ]
  5. Rate of aortic growth [ Time Frame: 20 years ]

Biospecimen Retention:   Samples With DNA
DNA extracted from saliva or blood specimens


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Individuals with H-TAD, with or without a known mutation, and their affected or unaffected relatives.
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.
  • Patients with H-TAD without a known mutation, i.e., individuals with thoracic aortic disease and similarly affected relatives or patients with the onset of disease before the age of 30 years.
  • Affected and unaffected relatives of patients with H-TAD without a known mutation.

Exclusion Criteria:

  • No evidence of H-TAD.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04005976


Contacts
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Contact: Study Director 713-500-6715
Contact: Program Manager 713-500-6715

Locations
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United States, Texas
The University of Texas Health Science Center at Houston Recruiting
Houston, Texas, United States, 77030
Contact: Program Manager    713-500-6715      
Sponsors and Collaborators
The University of Texas Health Science Center, Houston

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Responsible Party: Dianna M Milewicz, Professor and President George Bush Chair In Cardiovascular Medicine, The University of Texas Health Science Center, Houston
ClinicalTrials.gov Identifier: NCT04005976    
Other Study ID Numbers: HSC-MS-16-0191
First Posted: July 2, 2019    Key Record Dates
Last Update Posted: July 2, 2019
Last Verified: July 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Aneurysm
Aortic Aneurysm
Aneurysm, Dissecting
Aortic Diseases
Vascular Diseases
Cardiovascular Diseases