RecruitingNCT06782230
Connective Tissue
Marfan Syndrome
Also known as FBN1 mutation, fibrillin-1 deficiency, aortic aneurysm connective tissue
Marfan syndrome is caused by mutations in the FBN1 gene encoding fibrillin-1, a glycoprotein critical to connective tissue microfibrils. This leads to progressive aortic root dilation with risk of dissection, lens dislocation, tall stature,
10
studies recruiting now
as of 7 Sept 2026
97
studies registered in total
as of 7 Sept 2026
4
countries with a recruiting site
as of 7 Sept 2026
26 Jun 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT07672210
PregnAncy-Related Aortic DISsEction in China
RecruitingNCT06546137
National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
RecruitingNCT04970459
Biological Collection for Marfan and Related Syndromes
RecruitingNCT04194619
Pregnancy in Women With Rare Multisystemic Vascular Diseases: COGRare5 Study
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 10 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Marfan Syndrome
Marfan syndrome is caused by mutations in the FBN1 gene encoding fibrillin-1, a glycoprotein critical to connective tissue microfibrils. This leads to progressive aortic root dilation with risk of dissection, lens dislocation, tall stature, long limbs, pectus deformity, and dural ectasia. Beta-blockers and ARBs (losartan) are used to slow aortic progression. Trials focus on preventing aortic events and improving surgical timing.
Common clinical features
Aortic aneurysmArachnodactylyDisproportionate tall staturePectus carinatumSlender buildStriae distensaePes planusLens dislocation
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
6 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Losartan Potassium (Cozaar)
Phase 3Atenolol (Antipressan)
Phase 3Losartan
Phase 3Perindopril
Phase 2Irbesartan (Aprovel)
Phase 2Doxycycline (Doxirobe)
Before you apply
Things trial teams commonly ask about for Marfan Syndrome. Not eligibility rules; those are set by each study.
- Aortic root diameter (Z-score or absolute dimension) is the primary eligibility and safety measurement
- FBN1 mutation confirmation and family history are typically required for genetic trials
- Pediatric Marfan trials often have specific age windows - do not delay contacting sites
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).