Understanding cardiovascular issues in Marfan syndrome
Genome-wide Epistasis for Cardiovascular Severity in Marfan Study
This study looks at people with Marfan syndrome who have a specific gene mutation to see how it affects their heart health and aortic disease severity.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | University Hospital, Antwerp Academic / other |
| Locations | 1 site (Edegem, Prins Boudewijnlaan 43/6) |
| Trial ID | NCT06257004 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on individuals with Marfan syndrome who carry a specific mutation in the FBN1 gene, known as p.Ile2585Thr; c.7754T>C. The study aims to explore the variability in cardiovascular outcomes, particularly aortic disease severity, among mutation carriers. Participants will be stratified based on their aortic disease severity, and a subset will undergo whole genome sequencing and molecular characterization. The goal is to identify genetic modifiers that influence the clinical expressivity of the condition.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with Marfan syndrome who have the specific FBN1 mutation p.Ile2585Thr; c.7754T>C.
Not a fit: Patients without the specified FBN1 mutation or those with other forms of Marfan syndrome may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of cardiovascular risks in patients with Marfan syndrome.
How similar studies have performed: While studies on Marfan syndrome exist, this specific approach focusing on genetic modifiers and cardiovascular expressivity is novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Participants with proven mutation (p.Ile2585Thr;c.7754C\>T) in the FBN1 gene Exclusion Criteria: -
Where this trial is running
Edegem, Prins Boudewijnlaan 43/6
- University Hospital Antwerp — Edegem, Prins Boudewijnlaan 43/6, Belgium (Recruiting)
Study contacts
- Principal investigator: Bart Loeys, Prof,MD,PhD — University Hospital, Antwerp
- Study coordinator: Bart Loeys, Prof,MD,PhD
- Email: bart.loeys@uantwerpen.be
- Phone: ++32-3-2759768
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.