UK study checks if routine newborn screening can catch rare muscle disease early
NCT ID NCT05481164
First seen Nov 18, 2025 · Last updated May 06, 2026 · Updated 20 times
Summary
This study looked at whether adding a genetic test for spinal muscular atrophy (SMA) to the standard newborn blood spot screening is practical and accepted by families in the UK. Over 33,000 newborns were screened using leftover blood from their routine Guthrie card. The goal was to see how many parents agreed to the test and how reliably it identified babies with SMA, so they could get early treatment before symptoms appear.
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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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Locations
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Buckinghamshire HealthCare Trust
Buckingham, United Kingdom
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Dorset County Hospital (DCHFT)
Dorchester, DT1 2JY, United Kingdom
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Milton Keynes University Hospital NHS Foundation Trust
Milton Keynes, United Kingdom
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Princess Anne Hospital
Southampton, United Kingdom
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Queen Alexandra Hospital
Portsmouth, United Kingdom
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Royal Berkshire NHS Foundation Trust
Reading, United Kingdom
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Salisbury District Hospital
Salisbury, United Kingdom
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St Mary's Maternity Hospital
Poole, United Kingdom
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University of Oxford UK
Oxford, United Kingdom
Conditions
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