On July 3, 2018, Health and Human Services Secretary Alex Azar approved the recommendation that newborn screening for spinal muscular atrophy be implemented nationwide. This recommendation was issued on February 8, 2018, by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). With Secretary Azar’s signature, SMA becomes part of the Recommended Uniform Screening Panel (RUSP), a list of 35 core conditions that all newborns born in the US are recommended to be screened for.

Each state must determine whether they will implement SMA screening, and how quickly they will implement it. While this RUSP decision is not a requirement for states to begin screening, many states were waiting for the decision to be made. On average in the US, one baby each day is born with SMA. Each day represents the opportunity to save a life through newborn screening and early treatment.

Cure SMA is pleased to announce the following grants to newborn screening programs to help expediate the adoption and implementation of SMA to their statewide NBS panels.

$150,000 to the Iowa Newborn Screening Program

This grant is to help fund phase 1 of implementation of SMA NBS. Phase 1 involves the development of infrastructure to screen for SMA including: development of the laboratory test, development of short term follow up protocols, development of IT resources for both lab and follow up, and development of long term follow up capability. It is anticipated that Phase 1 will be completed in 6 to 9 months with Cure SMA grant funding. Completion of Phase 1 will allow the start of Phase 2, which is pilot screening for all infants in Iowa and clinical evaluation and treatment for infants identified as presumptive positive by the screen and receiving a confirmed diagnosis of SMA.

$75,000 to the Michigan Department of Health and Human Services

This grant will allow for Michigan to upgrade their LIMS (Laboratory Information Management) system to include SMA and will help support the hiring of molecular scientists to work on SMA NBS. SMA NBS is approved but not yet implemented in Michigan with a target start date of October 2019.

$150,000 to the Virginia Division of Consolidated Laboratory Services

This grant will allow for the purchase of PCR machines needed to perform the SMA NBS assay. The VA NBS program is preparing to implement SMA screening when the regulations have been fully approved by the Governor.

$150,000 to the Research Triangle Institute, a North Carolina Nonprofit Corporation

RTI is currently running the early check program. Early Check is a free screening study designed to identify children with rare health conditions before symptoms appear and study the benefits of early treatments. New and expectant mothers may enroll in the program online from their second trimester until 4 weeks after their child’s birth. This grant will allow for labor support for recruiters and the generation of recruitment materials to inform new parents and caregivers about early check in order to increase awareness of and enrollment into the program. Early check hopes that their SMA NBS will help bridge the gap until statewide SMA NBS implementation occurs in North Carolina.

Cure SMA would like to thank AveXis for helping support these grants.