Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorThe University of Texas Health Science Center, Houston
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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.
Disqualifiers
Patients without a confirmed causative variant for H-TAD.
Trial population
Individuals with a known mutation for H-TAD and their relatives who also carry the mutation
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
5,000 Participants
are grouped into 1 trial groupGroup A: Patients with causal mutations in the known H-TAD genes
Trial outcomes
Primary outcomes
1
Number of participants with aortic dissection
Aortic Dissection
Time frame
20 years2
Number of participants with aortic aneurysm requiring repair
Aortic repair
Time frame
20 years3
Number of participants who died due to an aortic dissection/rupture or postoperative complications
Mortality due to aortic disease
Time frame
20 years4
Number of participants with aortic dilation
Aortic dilation
Time frame
20 yearsSecondary outcomes
1
Number of participants with other cardiovascular complications
Number of participants with other cardiovascular complications including ) other arterial dissection, 2) other arterial dilation or aneurysm requiring repair, 3) other arterial occlusion (i.e. ≥50% stenosis), 4) stroke, 5) myocardial infarction, 6) congenital heart defect (bicuspid aortic valve and type of fusion, patent ductus arteriosus, atrial septal defect, ventricular septal defect, aortic coarctation, other), 7) mitral valve prolapse, 8) mitral valve regurgitation, 9) mitral valve disease requiring repair, 10) cardiomyopathy and type, 11) left ventricular hypertrophy (interventricular septal thickness \>10 mm), 12) arrhythmia (requiring a pacemaker), 13) pulmonary artery dilation, 14) pulmonary hypertension.
Time frame
20 yearsSponsors and contacts
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Source ClinicalTrials.gov