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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

Tracking Information
First Submitted Date July 1, 2019
First Posted Date July 2, 2019
Last Update Posted Date July 2, 2019
Actual Study Start Date April 29, 2016
Estimated Primary Completion Date January 1, 2037   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 1, 2019)
  • Number of participants with aortic dissection [ Time Frame: 20 years ]
  • Number of participants with aortic aneurysm requiring repair [ Time Frame: 20 years ]
  • Number of participants who died due to an aortic dissection/rupture or postoperative complications [ Time Frame: 20 years ]
  • Number of participants with aortic dilation [ Time Frame: 20 years ]
  • Rate of aortic growth [ Time Frame: 20 years ]
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Official Title Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
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.
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.
Study Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration 20 Years
Biospecimen Retention:   Samples With DNA
Description:
DNA extracted from saliva or blood specimens
Sampling Method Non-Probability Sample
Study Population Individuals with H-TAD, with or without a known mutation, and their affected or unaffected relatives.
Condition
  • Aortic Aneurysm
  • Aortic Dissection
  • Aortic Diseases
Intervention Not Provided
Study Groups/Cohorts 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.
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: July 1, 2019)
5000
Original Estimated Enrollment Same as current
Estimated Study Completion Date January 1, 2037
Estimated Primary Completion Date January 1, 2037   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts
Contact: Study Director 713-500-6715
Contact: Program Manager 713-500-6715
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT04005976
Other Study ID Numbers HSC-MS-16-0191
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Dianna M Milewicz, The University of Texas Health Science Center, Houston
Study Sponsor The University of Texas Health Science Center, Houston
Collaborators Not Provided
Investigators Not Provided
PRS Account The University of Texas Health Science Center, Houston
Verification Date July 2019