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Genome-wide Epistasis for Cardiovascular Severity in Marfan Study

NCT06257004 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2024-02-13

No results posted yet for this study

Summary

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular systems. Morbidity and mortality are mostly determined by aortic root aneurysm dissection and rupture. Although mutations in FBN1, the gene coding for the extracellular matrix protein fibrillin-1, are the well-established genetic cause of this condition, there is a very poor correlation between the nature or location of the causal FBN1 mutation and the phenotypical outcome. Indeed, wide intra- and interfamilial phenotypical variability is observed. So, even with an identical primary mutation in all family members, the clinical spectrum varies widely, from completely asymptomatic to sudden death due to aortic dissection at a young age. The precise mechanisms underlying this variability remain largely elusive.

Consequently, a better understanding of the functional effects of the primary mutation is highly needed and the identification of genetic variation that modifies these effects is becoming increasingly important. In this project, we have carefully selected different innovative strategies to discover mother nature's own modifying capabilities with respect to Marfan syndrome aortopathy.

Conditions

  • Marfan Syndrome
  • FBN1 Mutation

Interventions

GENETIC

Saliva collection (screening of all participants)

All participants will give a salive sample (self-sampling kit) - selection of 25% extremes (UMC and AMC) participants for WGS and linkage analysis

GENETIC

Bloodsampling

Based on the results of the WGS, a selection will be made of the 5% most extremes (UMC and AMC) participants for the iPSC-VSMC generation

Sponsors & Collaborators

  • University Hospital, Ghent

    collaborator OTHER

  • University Hospital, Antwerp

    lead OTHER

Principal Investigators

  • Bart Loeys, Prof,MD,PhD · University Hospital, Antwerp

  • Paul Coucke, Prof,MD,Ing · University Hospital, Ghent

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-11-30
Primary Completion
2025-10-31
Completion
2025-10-31

Countries

  • Belgium

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06257004 on ClinicalTrials.gov