Service Evaluation for Newborn Screening for Spinal Muscular Atrophy

NCT07888868 | Recruiting DMC

• 1 other identifier: SENS
• Study Type: observational
• Target: 750,000
• Locations: 1 country
• Sites: 3

Brief Summary

Spinal Muscular Atrophy (SMA) is a disease that causes progressive muscle weakness. There are many types- the most severe and most common, type 1, affects very young babies, and is life-threatening if untreated. Other types can cause significant disability. Most cases are caused by a missing part of the survival motor neuron 1 (SMN1) gene. Another related gene, SMN2, can partially compensate for this affected gene. With more copies of SMN2 broadly leading to a milder disease. Three new treatments can slow or prevent symptoms, but they work best when given before symptoms appear. This has led to many countries, including the USA and much of Europe, introducing newborn screening (NBS) for SMA, so that affected babies can be treated as early as possible. The investigators ran a UK pilot project that screened nearly 33,000 babies and found the test to be accurate and practical, but this pilot was too small to show whether screening improves outcomes or is good value for money for the NHS. The UK National Screening Committee would also like to know how acceptable NBS for SMA is for different groups of people. This study is designed to answer those questions. Screening will be introduced across seven NHS screening laboratories, most of which already screen for another rare condition, severe combined immunodeficiency (SCID). About 400,000 babies are born in the areas covered by these laboratories every year. Screening will be introduced gradually, so that the investigators can compare babies born before and after screening starts, with screening between the autumn of 2026 and autumn 2027. This will be followed by a period of only SMA NBS which will continue until autumn 2030. This will be compared to a period of no screening from autumn 2024 until autumn 2027 to include babies born before any laboratory starts screening and where the screening laboratories have not yet opened during the study. The study has two phases: Phase 1 will examine how successfully SMA NBS can be delivered through the NHS, and will look at:

• Whether screening can accurately identify SMA
• How quickly screening results are returned
• Whether babies diagnosed through SMA NBS start treatment earlier than those diagnosed because of symptoms
• How many parent(s)/guardian(s)/guardians agree to take part in screening
• How different groups feel about SMA NBS and whether there are any areas of the process that need to be improved Phase 2 will examine whether SMA NBS improves children's lives and will look at:
• Longer-term health outcomes, including whether treated children with SMA diagnosed by NBS or standard of care (SoC) can walk independently by 24 months
• Quality of life for children and families with SMA diagnosed by NBS or SoC
• Evaluate overall costs and benefits for the NHS How will the study work?
• It will be led by the University of Oxford, with input from hospitals, laboratories, patient groups, and experts across the UK.
• Parent(s)/guardian(s) will be asked for consent when their baby has the routine heel-prick blood test. No extra blood will be needed.
• A national clinical network called SMA REACH, will provide information about the milestones babies reach and their general health.
• All other information will be asked for directly from parent(s)/guardian(s) with children who have SMA
• Health economists will use information collected to update an existing mathematical model on cost-effectiveness. This will estimate whether the benefits of early diagnosis and treatment outweigh the costs of screening. The study will give the UK National Screening Committee (UK NSC) clear, high-quality evidence on whether newborn screening for SMA is feasible, acceptable, beneficial for children and families, and good value for the NHS.

Conditions

Spinal Muscular Atrophy (SMA)

Keywords

Spinal Muscular Atrophy; SMA

Outcome Measures

Primary Outcomes (1)

• Primary

  Number of patients born during the stepped wedge treated before 42 days of life.

  Report: January 2031

Secondary Outcomes (6)

• Secondary 1

  Report: March 2028

• Secondary 2

  Report: March 2028

• Secondary 3

  Report: March 2028

• Secondary 4

  Report: March 2028, January 2031

• Secondary 5

  Report: March 2028

Study Arms (3)

Phase 0

Patients with SMA who were born between October 2024 and August 2026 and were not offered newborn screening

Phase 1

Stepped-wedge study with a newborn screening laboratory opening every two months to offer SMA newborn screening. This will be across seven newborn screening laboratories.

Phase 2

Patients who have been identified as screen positive for SMA will be invited into a follow up study.

Eligibility Criteria

• Age: 5 Days - 5 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Screening - newborns having the newborn blood spot test Follow up - Participants with SMA, diagnosed prior to screening or identified through screening Acceptability - Health care professionals, SMA patients, Parents of children with SMA, families who decline screening, Families who screen negative for SMA

You may qualify if:

• Newborn for SMA screening (and acceptability study)
• All newborns will be included if:
• Their parent(s)/guardian(s)' consent to the addition of SMA screening
• Their DBS card will be processed at a screening centre that has been opened for SMA screening
• If They are born between October 2026 and September 2030
• For the acceptability study the parent(s)/guardian(s) of newborns (see criteria above) will be included whether they accept or decline screening.
• SMA patients for follow up (and acceptability study)
• If the patient is diagnosed with SMA by Standard of care route, they are included if they:
• Have a confirmed genetic diagnosis of SMA, regardless of SMN2 copies
• Are born between October 2024 and July 2026 inclusive (Cohort 0)
• Are born between August 2026 and September 2027 inclusive before SMA NBS has been initiated at the NBS testing centre covering their region of birth (Cohort 1a)
• Undergo SMA testing due to symptom onset or family history of SMA (but not through private SMA NBS)
• If the patient is diagnosed with SMA through NBS, they are included if they:
• Have a confirmed genetic diagnosis of SMA, regardless of SMN2 copies
• At the time of their birth, SMA NBS has been initiated at the NBS testing centre covering their region of birth

You may not qualify if:

• Newborn for SMA screening
• Newborns will be excluded from the study if:
• Their parent(s)/guardian(s) do not consent to standard NHS NBS and therefore the heel prick test (Parent(s)/guardian(s) who decline standard NHS NBS will still be invited to take part in the acceptability study)
• SMA patients for follow up
• Patients with SMA will be excluded from the study if:
• They are diagnosed due to private newborn screening

Sponsors & Collaborators

• University of Oxford: lead
• SMA REACH UK: collaborator
• University of Warwick: collaborator
• King's College London: collaborator
• University of Sheffield: collaborator
• University of Birmingham: collaborator
• Spinal Muscular Atrophy UK: collaborator
• Great Ormond Street Hospital for Children NHS Foundation Trust: collaborator

Study Sites (3)

Kings College London

London, United Kingdom

RECRUITING

University of Oxford

Oxford, OX3 9DU, United Kingdom

NOT YET RECRUITING

Warwick University

Warwick, United Kingdom

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 7, 2026
• First Posted: October 22, 2026
• Study Start: August 1, 2026
• Primary Completion (Estimated): September 1, 2030
• Study Completion (Estimated): February 1, 2031
• Last Updated: October 22, 2026

Record last verified: 2026-08

Data Sharing

• IPD Sharing: Will not share

Locations

GB (3)