New DNA tech uncovers hidden SMA carriers to boost genetic counseling
NCT ID NCT07332702
First seen Jan 12, 2026 · Last updated May 18, 2026 · Updated 19 times
Summary
This study aims to improve genetic counseling for spinal muscular atrophy (SMA), a severe nerve disease. Some carriers of the disease have a hidden gene duplication that current tests miss. Researchers will use advanced long-read DNA analysis to detect these hidden duplications in 27 adults, helping identify more carriers and provide better risk information for families.
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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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Contacts and locations
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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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