Spinal Muscular Atrophy (SMA)SENSNCT07888868
Service Evaluation for Newborn Screening for Spinal Muscular Atrophy
An observational study of Spinal Muscular Atrophy (SMA), run by University of Oxford at 3 sites in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Ages 5 days to 5 years
- Conditions the study is for
- Spinal Muscular Atrophy (SMA)
- How many people
- 750,000 participants
- Where
- 3 sitesUnited Kingdom
- Study dates
- 1 Aug 2026to Feb 2031
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 days to 5 years
- All sexes
- No healthy volunteers
- Child
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
Who may be able to join
- 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.
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- 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
- Are born between October 2026 and November 2027 inclusive (Cohort 1b)
- Are born between December 2027 and September 2028 inclusive (Cohort 2a)
- Are born between October 2028 and March 2029 inclusive and have 3 SMN2 copies (Cohort 2b)
- Are born between April 2029 and September 2030 inclusive (follow-up cohort)
- Undergo SMA testing due to NBS, family history of SMA or symptom onset (If screening was not done regardless of the reason or if screening is a false negative)
- Parent(s)/guardian(s) of babies with a negative SMA screening result (acceptability study only) If their baby is born between October 2026 and March 2029 within a region covered by one of the 7 screening laboratories at the time of birth
- Healthcare Professionals (acceptability study only)
- If they are involved in the delivery of SMA screening or supporting families following a screening result (if one of the areas covered by SMA screening)
- Or, they support babies and families following SoC diagnosis
- If they are a member of SMA UK staff involved in providing support/guidance to families who receive an SMA diagnosis.
Who cannot join
- 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
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United Kingdom3 sites, 3 recruiting
- Recruiting
Kings College London
London
Jane Chudleigh, 0207 848 5590, jane.2.chudleigh@kcl.ac.uk
- Not yet recruiting
University of Oxford
Oxford, OX3 9DU
Laura Chiverton, 01865 618799, laura.chiverton@paediatrics.ox.ac.uk
- Recruiting
Warwick University
Warwick
Felicity Boardman, 024 761 51291, Felicity.Boardman@warwick.ac.uk
Corinna Clarke, Corinna.Clark@warwick.ac.uk
About this study
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.
Read more
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
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Primary
Number of patients born during the stepped wedge treated before 42 days of life.
Measured: Report: January 2031
Secondary outcomes (6)
Secondary 1
Number of patients diagnosed during the stepped wedge treated before 42 days of life.
Measured: Report: March 2028
Secondary 2
Age at diagnosis, age at treatment and time to treatment will be described as a continuous/ time-to-event outcome
Measured: Report: March 2028
Secondary 3
Proportion of results delivered within 3 working days.
Measured: Report: March 2028
Secondary 4
Sensitivity, specificity, positive predictive value, and negative predictive value of SMA NBS
Measured: Report: March 2028, January 2031
Secondary 5
Proportion of approached parent(s)/guardians consenting to SMA NBS out of all those approached.
Measured: Report: March 2028
Secondary 6
Reasons for screening decline including barriers/facilitators of access. Comparison of demographic data between accepting and declining groups. Parent(s)/guardians and healthcare professionals' experiences of SMA NBS. Shared parent(s)/guardianal viewpoints on the acceptability of SMA NBS (Work Package 2 (WP2)). Recommendations for improving the acceptability of SMA NBS (WP2).
Measured: Report: December 2028 January 2031
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Oct 2026
- Study start1 Aug 2026
- Primary completionSep 2030 (estimated)
- Study completionFeb 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular Atrophy (SMA)Studies of the same condition, open and under way.
- More trials run by University of OxfordThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Retrospective
- Enrolment
- 750,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Oxford
- Sponsor type
- University, hospital or other
- Collaborators
- SMA REACH UK, University of Warwick, King's College London, University of Sheffield, University of Birmingham, Great Ormond Street Hospital for Children NHS Foundation Trust, Spinal Muscular Atrophy UK
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07888868
- Sponsor's protocol ID
- SENS
- Acronym
- SENS
- Status last verified
- Aug 2026
- First submitted
- 7 Aug 2026
- Last updated
- 22 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No