Newborn SMA Screening Service Evaluation

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is an observational evaluation of adding spinal muscular atrophy (SMA) screening to newborn screening programs. It includes both an acceptability study for parents and a follow-up pathway for babies diagnosed with SMA through standard care. The study will enroll newborns born between October 2026 and September 2030 if parents consent and the dried blood spot (DBS) card is processed at a designated screening center. Cohort 0 covers those diagnosed by standard routes born between 2024 and 2026, while Cohort 1a includes births from 2026 to 2027 in areas where SMA NBS has not yet started. The analysis will examine feasibility, consent rates, and potential service impacts within participating UK centers.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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
* 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.

Exclusion Criteria:

* 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

Where it's running

• Kings College London
  London, United Kingdom Recruiting
• Warwick University
  Warwick, United Kingdom Recruiting
• University of Oxford
  Oxford, United Kingdom Not yet recruiting

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Biomarker search in SMA using advanced multi-omics

  Researchers are trying to see if new biomarkers can help diagnose and monitor spinal muscular atrophy in patients and newborns.

  Recruiting at 3 sites Istituto Giannina Gaslini · Genova and 2 other locations · NCT07883655

• Effects of Different Stiffness Settings During Robotic Isokinetic Training in Children With SMA

  This study tests whether a portable knee-training robot with a compliant vs. rigid stiffness setting improves knee strength in children with spinal muscular atrophy, using each child’s other leg as a comparison.

  Recruiting Peking University Third Hospital · Beijing · NCT07822711

• Wearable monitoring of motor development in babies and young children with spinal muscular atrophy detected at birth

  This project will try wearing small motion sensors at home to see if they can track how babies and young children diagnosed with spinal muscular atrophy at birth move and develop, compared with healthy children.

  Recruiting University of Oxford · Oxford · NCT07543003

• HABIT-ILE plus Functional Strength Training for Children with SMA

  This study will try an intensive HABIT-ILE program combined with functional strength training for children aged 5–17 with SMA who are on stable disease-modifying therapy to see if it improves motor skills.

  Recruiting Teachers College, Columbia University · New York, New York · NCT07488338

• Long-read genetic analysis for Spinal Muscular Atrophy (LOREASI)

  This project tries a long-read DNA technique on adults with known SMN1 copy-number patterns to find hidden '2+0' carrier genotypes that standard tests miss.

  Recruiting University Hospital, Rouen · Rouen · NCT07332702

• Portable markerless video system to measure walking in adults with neuromuscular conditions or healthy volunteers.

  This project will test a portable video device that measures walking patterns to see if it can track gait changes in adults with neuromuscular diseases and in healthy volunteers.

  Recruiting Institut de Myologie, France · Paris · NCT07321977

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.