Newborn Screening for Spinal Muscular Atrophy

Launched by UNIVERSITY OF OXFORD · Jul 26, 2022

Keywords

ClinConnect Summary

This clinical trial is looking into the effectiveness of newborn screening for spinal muscular atrophy (SMA), a serious genetic condition that affects muscle control and movement in infants and young children. By testing newborns for SMA right after birth, doctors hope to identify the condition early, even before symptoms appear. Early diagnosis can lead to better treatment options and improved outcomes for affected children.

To be eligible for this trial, mothers need to be receiving prenatal care at specific hospitals in the Thames Valley area and should be at least 18 weeks pregnant or have given birth within the last 28 days. Mothers must be able to understand the information about the study and provide their consent. If they choose to participate, their baby's blood sample will be tested as part of the routine newborn screening process, without disrupting any standard procedures. This study aims to make detecting SMA easier, potentially saving lives and improving the quality of life for children who have this condition.

Gender

FEMALE

Eligibility 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