Hidden gene duplication uncovered: new test could prevent SMA in future generations
NCT ID NCT07332702
First seen Jan 12, 2026 · Last updated May 10, 2026 · Updated 17 times
Summary
This study aims to improve genetic counseling for spinal muscular atrophy (SMA), a severe muscle disease. Some carriers of the disease have a hidden gene duplication that current tests miss. Researchers will use advanced DNA technology to detect these hidden cases in 27 adults, helping more couples understand their risk of passing SMA to their children.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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CHU Rouen
RECRUITINGRouen, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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