SMA is a devastating autosomal recessive neuromuscular disorder characterized by progressive skeletal and respiratory muscle weakness leading to early childhood death. SMA is caused by pathogenic variants in survival motor neuron gene 1 (SMN1), resulting in motor neuron loss. Following successful SMA newborn screening pilots and FDA-approval of the first SMA treatment, in February 2017 SMA was submitted to the federal Recommended Uniform Screening Panel (RUSP) and approved in July 2018. With an estimated incidence of 1:11,000, more than 325 infants are born annually with SMA in the US. SMA NBS facilitates early diagnosis and treatment with disease modifying outcomes.
To describe the current status of SMA newborn screening implementation in the United States.
Cure SMA contacted state public health laboratories to provide resources, assay development support and offer funding opportunities. Advocacy focused on state specific decision-makers for NBS including legislation, state public health laboratories, and/or NBS advisory committees. Cure SMA worked with families and clinicians to provide supportive testimony. Social media, op-eds, website-based information were used to increase awareness and provide education. Cure SMA promoted the awareness campaign for early SMA symptom recognition called SMArt Moves, through Doximity, YouTube, and Google ads and searches. Cure SMA invited state public health laboratories to provide quarterly updates on state SMA NBS screening results. Cure SMA also offers the SMA NBS Registry inviting parents to participate and provide information annually.
As of 2021Q4, 39 states have implemented SMA NBS representing 86% of infants born in the US. More than 300 infants have been identified by SMA NBS with 31 states reporting. 192 families have contacted Cure SMA for information and support. 51 infants are included in the SMA NBS registry. Information to date reveals median confirmed SMA diagnosis age of 7 days (range 1-22 days) and median time to SMA treatment after diagnosis of 18 days (range 1-482 days).
Widespread SMA NBS is essential to ensure SMA infants receive prompt diagnosis and FDA-approved treatment and thus the best opportunity for improved outcomes.
Acknowledgements: This work was funded by the Cure SMA Newborn Screening Coalition. Members include Cure SMA, Novartis Gene Therapies and Genentech, a member of the Roche Group