RecruitingNot Applicable

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

United States5,000 participantsStarted 2016-06-15

Plain-language 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.

Who can participate

SexALL

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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.

What they're measuring

Number of participants with aortic dissection

Timeframe: 20 years

Number of participants with aortic aneurysm requiring repair

Timeframe: 20 years

Number of participants who died due to an aortic dissection/rupture or postoperative complications

Timeframe: 20 years

Number of participants with aortic dilation

Timeframe: 20 years

Rate of aortic growth

Timeframe: 20 years

Trial details

NCT IDNCT04005976

SponsorThe University of Texas Health Science Center, Houston

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2037-01-01

Contact for this trial

Dianna M Milewicz, MD, PhD

713-500-6725 Dianna.M.Milewicz@uth.tmc.edu

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