Screening newborns for spinal muscular atrophy
Population-based New-Born Screening of Spinal Muscular Atrophy to Evaluate the Uptake and Feasibility in the UK Context
This study is testing if screening newborns for spinal muscular atrophy can help identify the condition early so that babies can get treatment sooner.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 45000 (estimated) |
| Ages | 16 Years and up |
| Sex | Female |
| Sponsor | University of Oxford Academic / other |
| Locations | 8 sites (Buckingham and 7 other locations) |
| Trial ID | NCT05481164 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on the early screening of newborns for spinal muscular atrophy (SMA), a severe genetic disorder that leads to the loss of motor neurons and muscle strength. By screening newborns, the study aims to identify SMA cases before clinical symptoms appear, allowing for timely intervention. The study involves mothers undergoing antenatal care in the Thames Valley region, whose blood spots will be screened for SMA at a specialized laboratory. This proactive approach seeks to improve outcomes for affected infants by facilitating early diagnosis and treatment.
Who should consider this trial
Good fit: Ideal candidates for this study are mothers in the second or third trimester of pregnancy or those with newborns up to 28 days old, who are receiving antenatal care in the Thames Valley region.
Not a fit: Patients whose mothers cannot understand written or verbal English may not benefit from this study due to the inability to provide informed consent.
Why it matters
Potential benefit: If successful, this screening could lead to earlier diagnosis and treatment of spinal muscular atrophy, significantly improving survival and quality of life for affected infants.
How similar studies have performed: Other studies have shown success with early screening approaches for genetic disorders, suggesting that this method could be effective for SMA as well.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Buckingham and 7 other locations
- Buckinghamshire HealthCare Trust — Buckingham, United Kingdom (Recruiting)
- Milton Keynes University Hospital NHS Foundation Trust — Milton Keynes, United Kingdom (Recruiting)
- University of Oxford UK — Oxford, United Kingdom (Recruiting)
- St Mary's Maternity Hospital — Poole, United Kingdom (Recruiting)
- Queen Alexandra Hospital — Portsmouth, United Kingdom (Recruiting)
- Royal Berkshire NHS Foundation Trust — Reading, United Kingdom (Recruiting)
- Salisbury District Hospital — Salisbury, United Kingdom (Recruiting)
- Princess Anne Hospital — Southampton, United Kingdom (Recruiting)
Study contacts
- Study coordinator: Isabel Hatami
- Email: sma.newbornscreening@paediatrics.ox.ac.uk
- Phone: 01865618799
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.