RecruitingNCT02504853
Connective Tissue
Loeys-Dietz Syndrome
Also known as LDS, TGFBR1/TGFBR2 aortopathy, Loeys-Dietz aortic syndrome
Loeys-Dietz syndrome is an autosomal dominant connective tissue disorder caused by dysregulation of TGF-beta signalling, resulting in aggressive aortic aneurysm and dissection, arterial tortuosity throughout the vasculature, and skeletal an
ORPHA:60030 ↗Gene TGFBR1Gene TGFBR2Gene SMAD3Prevalence Estimated 1 in 100,000 (likely underdiagnosed)Onset Congenital or early childhoodGenetic — autosomal dominant
4
studies recruiting now
as of 7 Sept 2026
11
studies registered in total
as of 7 Sept 2026
3
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
RecruitingNot applicableNCT02050113
Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices
Showing the 4 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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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 Loeys-Dietz Syndrome
Loeys-Dietz syndrome is an autosomal dominant connective tissue disorder caused by dysregulation of TGF-beta signalling, resulting in aggressive aortic aneurysm and dissection, arterial tortuosity throughout the vasculature, and skeletal and craniofacial abnormalities. Compared to Marfan syndrome, LDS carries a higher risk of aortic dissection at smaller aortic diameters and at younger ages, making early surgical intervention critical. Subtypes (LDS1–6) vary in severity and specific gene involved, with TGFBR2 variants often associated with more severe vascular phenotype.
Common clinical features
Aortic root aneurysm and dissectionWidespread arterial tortuosity and aneurysms beyond the aortaBifid uvula or cleft palateHypertelorism (widely spaced eyes)Craniosynostosis (in LDS1)Scoliosis, pectus deformity, and joint hypermobilityClub foot and cervical spine instability
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Loeys-Dietz Syndrome. Not eligibility rules; those are set by each study.
- Cardiovascular imaging (echocardiogram and full aortic MRA/CTA with measurements) is mandatory at screening; ensure imaging is current within 6 months and includes measurement of all arterial segments.
- Prior or planned aortic surgery does not automatically exclude participation but must be disclosed; confirm surgical history and current aortic dimensions with the trial team.
- Genetic confirmation specifying the exact variant and LDS subtype (1–6) is required, as trials may be restricted to specific pathway genes (TGFBR1/2 vs. SMAD3 vs. SKI).
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).