SMAD6-related disease
MONDO:0700324A human disease in which the cause of the disease is a variation in the SMAD6 gene, and characterized by craniosynostosis with congenital heart disease and/or radioulnar synostosis.
Also known as: SMAD6-related disease with variable craniosynostosis, aortic valve disease, and/or radioulnar synostosis
11 clinical trials for this condition and its sub-types.
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Broader categories
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New hope for young heart patients: less invasive valve replacement under study
Disease control Recruiting nowThis study looks at how safe and effective a less invasive heart valve replacement (called Sapien 3 TAVR) is for younger patients (ages 50-70) in China with severe aortic stenosis. Researchers will track 450 participants for up to 5 years to see survival rates and complications. …
Sponsor: Xijing Hospital • Aim: Disease control
Last updated Jun 27, 2026 12:37 UTC
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New trial aims to standardize heart valve repair for common birth defect
Disease control Recruiting nowThis clinical trial is testing two different surgical methods to repair a bicuspid aortic valve, a common heart defect where the valve has two flaps instead of three. The study will enroll 100 people with this condition who also have a leaky valve (aortic regurgitation). Half wil…
Phase: NA • Sponsor: University Hospital Augsburg • Aim: Disease control
Last updated Jun 27, 2026 07:53 UTC
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Massive heart biobank aims to unlock secrets of aortic disease
Knowledge-focused Recruiting nowThis study is creating a large biobank of blood, DNA, plasma, and tissue samples from 15,000 people with and without heart and aortic diseases. Researchers will use this information to better understand conditions like aortic aneurysm, heart failure, and bicuspid aortic valve. Th…
Sponsor: University of Michigan • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:24 UTC
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AI boosts heart valve diagnosis speed and accuracy
Knowledge-focused Recruiting nowThis study tests whether artificial intelligence (AI) can help cardiologists read echocardiograms (heart ultrasounds) more quickly and consistently. Researchers will give AI analysis to doctors in real time as they review heart images from 50 participants with valve disease. The …
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:07 UTC