Improved outcomes seen at two years for those with newborn screening coupled with access to disease-modifying therapies<\/p>\n<\/h3>\n
By Elana Gotkine HealthDay Reporter<\/b><\/p>\n
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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<\/em>.<\/p>\n 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.<\/p>\n 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.<\/p>\n “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.<\/p>\n Two authors disclosed financial ties to biopharmaceutical companies, including sponsors of disease-modifying treatment for spinal muscular atrophy.<\/p>\n Abstract\/Full Text (subscription or payment may be required)<\/a><\/p>\n Editorial (subscription or payment may be required)<\/a><\/p>\n <\/i><\/p>\n