Abstract Details

Title Implementation of Spinal Muscular Atrophy Newborn Screening across the US

Topic Child Neurology and Developmental Neurology

Presentation(s) P16 - Poster Session 16 (8:00 AM-9:00 AM)

Poster/Presentation
Number 6-001

Objective

To describe spinal muscular atrophy (SMA) newborn screening (NBS) implementation in the United States.

Background 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 NBS pilots and FDA-approval of first SMA treatment, SMA was submitted in February 2017 to the 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 will facilitate early diagnosis and treatment with disease modifying outcomes.

Design/Methods

Cure SMA contacted state public health labs to provide resources, assay development support and funding opportunities. Advocacy focused on state specific decision-making entities for NBS including legislation and/or NBS advisory committee. 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 also offers SMArt Moves, awareness campaign for early SMA symptom recognition until NBS is fully implemented and to create awareness for the 5% of infants with SMA that will not be identified by NBS. Cure SMA offers the SMA NBS Registry inviting parents to participate and provide information annually.

Results

As of 2021Q3, 38 states have implemented SMA NBS representing 85% of infants born in US. More than 276 infants have been identified by SMA NBS with 30 states reporting. 184 families contacted Cure SMA for information and support. 44 infants included in the registry demonstrated median diagnosis age of 7 days and median time to treatment after diagnosis of19 days.

Conclusions

Widespread NBS is critical toward ensuring SMA infants receive prompt diagnosis and FDA-approved treatment and thus best opportunity for improved outcomes.

Authors/Disclosures
Mary K. Schroth, MD PRESENTER	Dr. Schroth has received personal compensation for serving as an employee of Cure SMA. The institution of Dr. Schroth has received research support from Biogen.
	No disclosure on file
Lisa Belter	Lisa Belter has received personal compensation for serving as an employee of Cure SMA.
Mary Curry, ND	Mary Curry has received personal compensation for serving as an employee of Cure SMA.
Jacqueline Glascock, PhD (Cure SMA)	Dr. Glascock has received personal compensation for serving as an employee of Cure SMA.

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