Cure SMA is pleased to announce the publication of “Newborn Screening and Birth Prevalence for Spinal Muscular Atrophy in the US” in JAMA Pediatrics on July 15, 2024.
This paper reports the largest data collection of infants with SMA identified by newborn screening in the U.S. The objectives were: 1) to update the estimated birth prevalence1 of SMA in the U.S., and 2) to evaluate SMN2 copy number distribution in U.S. newborns with SMA identified by newborn screening. Previously published literature has estimated that the birth prevalence of SMA was 1 in 10,000.
In this study, Cure SMA partnered with state public health laboratories who perform statewide newborn screening to collect data on the number of infants who have been screened for SMA and the number of infants who had a confirmed diagnosis of SMA. Data shared with Cure SMA indicated that between 2018 and 2022, a total of 6,244,825 infants were screened in 30 U.S. states of which 425 of these infants screened positive and had a confirmed diagnosis of SMA. This data provided an update on the estimated birth prevalence of SMA in the U.S. to 1 in 14,694 live births. Furthermore, information about SMN2 copy number was shared on 240 infants with SMA identified by newborn screening. Of these 240 infants, 5% of infants had one copy of SMN2, 49% had two copies of SMN2, 33% had three copies of SMN2, and 13% had four or more copies of SMN2.
Understanding the current birth prevalence of SMA in the U.S. will help support the planning of SMA care and research, as well as anticipate the utilization of SMA care resources and treatments.
Thank you!
1 SMA birth prevalence refers to the proportion of a birth cohort that will have SMA.
Funding for this initiative was provided by the Cure SMA Real World Evidence Collaboration; members include Cure SMA, Novartis, Biogen, Genentech/Roche.
