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
12 clinical trials for this condition and its sub-types, 0 tagged with SMAD6-related disease itself.
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Sub-types of SMAD6-related disease
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Aortic valve disease 2 12 trials
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Craniosynostosis 7 0 trials
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AI may spot dangerous aortic growth before it happens
Knowledge-focused CompletedThis study is testing whether an artificial intelligence model can predict how the aorta might dilate (widen) in people with bicuspid aortic valve—a common heart valve condition that raises the risk of aortic aneurysm. Researchers will analyze CT scans from 1,000 patients who had…
Sponsor: Second Affiliated Hospital, Zhejiang University, School of Medicine • Aim: Knowledge-focused
Last updated Aug 26, 2026 00:00 UTC
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New study tracks how a common heart valve performs in people born with a bicuspid valve
Knowledge-focused CompletedThis study follows 150 people with bicuspid aortic stenosis—a narrowed heart valve present from birth—who receive a transcatheter aortic valve replacement (TAVI) using the Evolut Pro or Evolut R XL device. Researchers will measure how well the valve works over time, including blo…
Sponsor: Clinique Pasteur • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC