Newborn Screening for Spinal Muscular Atrophy in the United States: Perspectives from Multiple Real World Data Sources


Clinical Management

Poster Number: 47


Sarah Whitmire, MS, Cure SMA, Lisa Belter, MPH, Cure SMA, Alesa Monk, MBA, Cure SMA, Jackie Glascock, PhD, Cure SMA, Jessica Clark, Cure SMA, Erica Jorgensen, Cure SMA, Mary Curry, ND, Cure SMA, Mary Schroth, Cure SMA

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease due to a mutation in or deletion of the SMN1 gene. Early intervention is necessary to slow the destruction of motor nerve cells and preserve motor function. As of November 2022, 48 states have implemented newborn screening (NBS) for SMA. Cure SMA, a patient advocacy organization that provides patient/family support and funding for SMA research and care, manages multiple databases which include individuals identified by SMA NBS in the United States (US). The objective of this analysis is to describe SMA characteristics and outcomes from each data source side-by-side to give a holistic picture of SMA screening in the US.

Data from four Cure SMA databases will be presented. The Newborn Screening Registry (NBSR) is a parent/caregiver-reported database collected through an online survey with over 65 individuals identified via NBS. The Clinical Data Registry (CDR) is a database comprised of electronic medical record-sourced data from the US Care Center Network and is linked to clinician-entered SMA-specific electronic case report forms (eCRF). Approximately 800 affected individuals participate in the CDR. The membership database is one of the largest patient-reported SMA data repositories worldwide, with over 9,500 individuals with SMA. Additionally, Cure SMA has collected incidence rates and additional metrics from over 40 state public health labs, representing 450 SMA NBS-identified infants.

The distribution of SMN2 copy number, reported age at diagnosis and treatment, use of treatment, and age at milestone achievement will be presented from each data source, where information is available.

Data from this analysis will further characterize the incident population with SMA identified by NBS from multiple perspectives, including patient reported outcomes, clinician reported outcomes, and public health reported data. This multisource analysis will provide greater insight into the current processes, experience, and outcomes of children with SMA identified through NBS.