Genome-wide Epistasis for cardiovascular severity in Marfan Study

• Conditions: connective tissue disorder; Marfan syndrome; 10007510

• Registration Number: NL-OMON56901
• Lead Sponsor: niversitair Ziekenhuis Antwerpen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 40

Inclusion Criteria

Patient is carrier of the FBN1 mutation c.7754T>C; p.Ile2585Thr or c.2645C>T;
p.Ala882Val

Exclusion Criteria

None

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Identification of genetic modifiers on the cardiovascular phenotypical<br /><br>variability in Marfan syndrome. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Assembly of clinical data for mutation carriers of selected FBN1 variants</p><br>