Genome-wide Epistasis for Cardiovascular Severity in Marfan Study

Launched by UNIVERSITY HOSPITAL, ANTWERP · Feb 5, 2024

Keywords

ClinConnect Summary

This clinical trial, called the Genome-wide Epistasis for Cardiovascular Severity in Marfan Study, is focused on understanding Marfan syndrome, a genetic condition that affects connective tissues in the body. People with Marfan syndrome often have complications related to their heart and blood vessels, especially the aorta, which can lead to serious health issues. The trial aims to explore why individuals with the same genetic mutation can have very different experiences, from being completely healthy to facing life-threatening conditions. By studying these differences, researchers hope to identify factors that influence the severity of symptoms and improve care for those affected.

To participate in this trial, individuals must have a specific mutation in the FBN1 gene, known as p.Ile2585Thr;c.7754C>T. The study is open to people of all ages and genders who meet this criterion. Participants can expect to engage in various innovative research strategies that may help uncover important insights about Marfan syndrome and its effects. This could lead to better understanding and management of the condition in the future. If you or someone you know has this specific mutation, this trial may offer an opportunity to contribute to valuable research.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Participants with proven mutation (p.Ile2585Thr;c.7754C\>T) in the FBN1 gene
• Exclusion Criteria:
• • -