SMA - TREATMENT: EP.290 Newborn screening (NBS) for spinal muscular atrophy (SMA) in the United States (US): Early findings from the RESTORE registry

Abstract

For children with SMA type 1, timely intervention is critical for survival, independence from ventilatory support, and preservation of motor function. While NBS for SMA may facilitate early treatment, which is generally associated with more favorable outcomes, quantitative real-world data are lacking. RESTORE is an ongoing, prospective, multicenter, multinational, observational study of patients with SMA. We stratified patients with up to two SMN2 gene copies into two groups based on method of diagnosis: NBS/prenatal screening or clinical diagnosis of SMA type 1.