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This study evaluates a newborn screening method for spinal muscular atrophy (a muscle disease linked to the SMN1 gene). It included the babies of mothers receiving antenatal care at hospitals in the Thames Valley region, through blood spot screening. It was a study without a phase and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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