SENS

• Research type

  Research Study

• Full title

  Service Evaluation for Newborn screening for Spinal Muscular Atrophy

• IRAS ID

  362593

• Contact name

  Laurent/LS Servais

• Contact email

  laurent.servais@paediatrics.ox.ac.uk

• Sponsor organisation

  Research Governance Ethics and Assurance

• Duration of Study in the UK

  4 years, 5 months, 31 days

• Research summary

  Spinal muscular atrophy (SMA) is a rare, inherited condition that causes muscles to weaken over time. There are different types of SMA and the most severe and common, type 1, affects young babies and can be life-threatening. Other types can cause significant disability. Most cases are caused by a missing part of a gene called SMN1 (Survival of motor neuron). Another related gene, SMN2, can partly compensate. Several new treatments can now slow or prevent symptoms, but they work best when given before symptoms appear. While newborn screening (NBS) for SMA is carried out in other countries, in our study we will assess whether it should be implemented in the UK.

  This study is designed to answer whether SMA NBS improves patient outcomes, is feasible within the NHS system and good value for money. We will also look at how acceptable NBS for SMA is for different groups of people.

  Due to a previous in-service evaluation for severe combined immunodeficiency (SCID), we will screen across seven NHS screening laboratories, which covers about 400,000 babies born each year. Parent(s)/guardian(s) will be offered both SCID/SMA NBS due to NHSE operational processes.

  We will compare babies born in these areas before screening was offered and diagnosed with SMA to babies with SMA who were screened at birth.

  The study has two phases and whether it is acceptable:
  Phase 1: how successfully SMA NBS can be delivered through the NHS:
  - Accuracy of Screening
  - How quickly screening results are returned
  - Whether babies diagnosed through NBS start treatment earlier than those diagnosed through symptoms
  - How many parent(s)/guardian(s) take part
  - How different groups feel about SMA NBS
  Phase 2: whether SMA NBS improves children’s lives:
  - Longer-term health outcomes
  - Quality of life for children and families
  - Evaluate overall costs and benefits for the NHS
  

• REC name

  East Midlands - Leicester South Research Ethics Committee

• REC reference

  26/EM/0142

• Date of REC Opinion

  29 Jun 2026

• REC opinion

  Favourable Opinion