UK tests Life-Saving baby screening for devastating muscle disease

NCT ID NCT05481164

Summary

This study tested a new screening program for babies to detect spinal muscular atrophy (SMA), a severe genetic muscle disease, as early as possible. Over 33,500 newborns in the UK were screened using a tiny extra blood spot from their routine newborn test. The goal was to see if this screening is practical, reliable, and accepted by parents, so babies with SMA can be diagnosed and treated before symptoms cause irreversible damage.

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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.