Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Launched by THE UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER, HOUSTON · Jul 1, 2019

Keywords

ClinConnect Summary

The Montalcino Aortic Consortium (MAC) is a clinical trial that aims to better understand heritable thoracic aortic diseases, which include conditions like aortic aneurysms and aortic dissections. The goal is to gather a large group of patients who have specific genetic changes linked to these diseases and to study how these changes affect their health. By doing this, researchers hope to identify both genetic factors and environmental influences that can help in diagnosing and treating these conditions more effectively.

To participate in this study, you or your family members must have a confirmed genetic change related to heritable thoracic aortic diseases. This applies to people of all ages and backgrounds. If eligible, participants will undergo assessments to help researchers collect important information about their health and genetics. It's a great opportunity to contribute to understanding these conditions, which could lead to improved care for others in the future. The trial is currently recruiting participants, so if you think you might be eligible, consider discussing it with your healthcare provider.

Gender

ALL

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.
• Exclusion Criteria:
• • Patients without a confirmed causative variant for H-TAD.