Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study
Abstract
BACKGROUND
In light of a new therapeutic era for spinal muscular atrophy (SMA), newborn screening has been proposed as a gateway to facilitate expedient diagnosis and access to therapeutics. However, there is paucity of evidence on health outcomes outside the homogenous populations in clinical trials to justify broader implementation of newborn screening for SMA. In this real-world study, we aimed to investigate the effectiveness of newborn screening coupled with access to disease-modifying therapeutics, as an intervention for SMA.
METHODS
In this prospective, non-randomised cohort study done at Sydney Children's Hospital Network (NSW, Australia), we included children younger than 16 years with homozygous exon 7 deletions of survival motor neuron 1 gene (SMN1) mutations, non-selectively assigned to a screening group (incident population diagnosed by newborn screening) from Aug 1, 2018, to Aug 1, 2020, or a comparator group (incident population diagnosed by clinical referral) from Aug 1, 2016, to July 31, 2018. We excluded infants with compound heterozygous SMN1 mutations and those participating in ongoing and unpublished clinical trials. Effectiveness of newborn screening for SMA was compared using motor development milestone attainment defined by WHO Multicentre Growth Reference Study at 2 years post diagnosis. Secondary outcome measures included mortality and change in Hammersmith Infant Neurological Examination-2 (HINE-2) score, ventilation requirements, and enteral…
How strong is the evidence?
Evidence Hub reads this as a randomized trial, done in people. Its evidence level is 2 of 5 (High · randomized trial). Randomized trials of a reasonable size are the strongest single-study design. Reported size: 34 participants or records.
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