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UK study tests newborn screening for rare muscle disease

NCT ID NCT05481164

Knowledge-focused Sponsor: University of Oxford Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This completed study looked at whether it is practical and acceptable to screen all newborns for spinal muscular atrophy (SMA), a rare genetic disease that causes muscle weakness and can be fatal if not treated early. Over 33,000 babies were screened using a simple blood spot test. The goal was to see how many parents agreed to screening and how reliable the test was, with the hope that early detection could lead to better outcomes.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could pave the way for nationwide newborn screening for SMA, allowing early diagnosis and treatment before symptoms appear.
What could go wrong
This is a feasibility study, not a treatment trial. It only measures uptake and accuracy of screening, not long-term health outcomes. Results may not apply outside the UK.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

33,568 people

The number who actually took part.

Started

Mar 2022

Finished

Jul 2025

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Pregnant women

Ages

16 years and older

Sex

Female participants only

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Whose mother is undergoing antenatal care at one of the four Hospital Trusts in the Thames Valley region, whose blood spot will be screened at the NHS Oxford Regenial Genetics Laboratory * Whose mother is able to understand the participant information sheet and is willing to provide her informed consent. * Whose mother is in the second or third trimester of pregnancy (≥18 weeks' gestation), or up to 28 days postnatal (the latter is consistent with the World Health Organisation's definition of a newborn infant or neonate) Exclusion Criteria: * Whose mother is unable to understand written or verbal English which would preclude them from understanding the study

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Conditions

The condition(s) this trial relates to.

spinal muscular atrophy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Muscular atrophy, spinal

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

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