Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

TLDR

The study aimed to assess the feasibility and utility of newborn screening for spinal muscular atrophy in New York State. Using a multiplex TaqMan qPCR assay on dried blood spots, 3,826 newborns were screened for SMN1 exon 7 deletion between January 2016 and January 2017. The pilot achieved a 93 % opt‑in rate, a 1.5 % carrier frequency, identified one infant with homozygous SMN1 deletion and two SMN2 copies who received Spinraza at 15 days and is now 12 months developmentally normal, demonstrating the feasibility and clinical benefit of newborn SMA screening and supporting its addition to national panels.

Abstract

PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.ResultsNinety-three percent of parents opted in for SMA screening. Overall the SMA carrier frequency was 1.5%. We identified one newborn with a homozygous SMN1 deletion and two copies of SMN2, which strongly suggests the severe type 1 SMA phenotype. The infant was enrolled in the NURTURE clinical trial and was first treated with Spinraza at age 15 days. She is now age 12 months, meeting all developmental milestones, and free of any respiratory issues.ConclusionOur pilot study demonstrates the feasibility of population-based screening, the acceptance by families, and the benefit of newborn screening for SMA. We suggest that SMA be considered for addition to the national recommended uniform screening panel.