Improved outcomes seen at two years for those with newborn screening coupled with access to disease-modifying therapies
By Elana Gotkine HealthDay Reporter
FRIDAY, Jan. 20, 2023 (HealthDay News) — Newborn screening for spinal muscular atrophy (SMA), together with access to disease-modifying therapies, improves functional burden, according to a study published online Jan. 17 in The Lancet Child & Adolescent Health.
Didu S. Kariyawasam, Ph.D., from the Sydney Children’s Hospital Network, and colleagues conducted a prospective, nonrandomized cohort study involving children younger than 16 years with homozygous exon 7 deletions of survival motor neuron 1 gene mutations, nonselectively assigned to a screening group (incident population diagnosed by newborn screening) or a comparator group (incident population diagnosed by clinical referral; 15 and 18 children, respectively). The screening group had access to disease-modifying therapeutics as an intervention for SMA.
The researchers found that the two-year survival rate was 93 and 89 percent in the screening group and comparator group, respectively. Among survivors, 79 and 6 percent walked independently or with assistance in the screening and comparator groups, respectively. Over two years, there was a significantly greater change in motor function observed in the screening versus the comparator group. Compared with the screening group, the comparator group had a higher requirement for noninvasive ventilation or feeding support. The Hammersmith Infant Neurological Examination-2 score, Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders, compound muscle action potential, and disease status at diagnosis were significant predictors of functional motor outcomes.
“This study has bridged the data gap, providing evidence for the effectiveness of screening for SMA and impetus for its wider dissemination,” the authors write.
Two authors disclosed financial ties to biopharmaceutical companies, including sponsors of disease-modifying treatment for spinal muscular atrophy.
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