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UK study checks if newborn SMA screening works

NCT ID NCT05481164

First seen Nov 18, 2025 · Last updated May 22, 2026 · Updated 23 times

Summary

This study looked at whether screening newborn babies for spinal muscular atrophy (SMA) is practical and acceptable to parents in the UK. SMA is a rare genetic disease that destroys nerve cells controlling movement, often leading to severe disability or early death. By testing blood spots from over 33,000 newborns, researchers aimed to see how many parents agreed to screening and how reliably the test identified affected babies, with the goal of enabling early treatment before symptoms appear.

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Contacts and locations

Locations

  • Buckinghamshire HealthCare Trust

    Buckingham, United Kingdom

  • Dorset County Hospital (DCHFT)

    Dorchester, DT1 2JY, United Kingdom

  • Milton Keynes University Hospital NHS Foundation Trust

    Milton Keynes, United Kingdom

  • Princess Anne Hospital

    Southampton, United Kingdom

  • Queen Alexandra Hospital

    Portsmouth, United Kingdom

  • Royal Berkshire NHS Foundation Trust

    Reading, United Kingdom

  • Salisbury District Hospital

    Salisbury, United Kingdom

  • St Mary's Maternity Hospital

    Poole, United Kingdom

  • University of Oxford UK

    Oxford, United Kingdom

Conditions

Explore the condition pages connected to this study.