With an incidence of approximately one in 11,000, more than 360 infants will be born annually with spinal muscular atrophy (SMA). Newborn screening can help to pre-empt irreversible motor neuron loss, increase prompt intervention, and eliminate long diagnostic delays. The impact of early diagnosis has been demonstrated through several studies that reinforce the importance of newborn screening.

On July 3, 2018, Health and Human Services Secretary Alex Azar approved the recommendation that newborn screening for SMA 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 became part of the Recommended Uniform Screening Panel (RUSP), a list of 35 core conditions that all newborns born in the U.S. are recommended to be screened for.

Now, 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 U.S., 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 in support of newborn screening programs to help expediate the adoption and implementation of SMA to their statewide newborn screening panels.

$126,252 to the Colorado Newborn Screening Program

Funding from this grant will be used to purchase reagents and equipment necessary to run the SMA screening assay. Additionally, funds will be used to support staff time and training in order to validate and implement screening. Colorado has adopted SMA to their list of conditions screened and will implement testing on January 1, 2020.

$125,000 to the Kansas Health and Environmental Laboratories, Newborn Screening Program

This grant will allow for the purchase of two large pieces of laboratory equipment necessary to run the assay to screen for SMA. This equipment will also allow the SMA assay to be multiplexed (i.e., run concurrently) with the assay used to detect SCID, reducing costs to the laboratory and increasing efficiency. Kansas has adopted SMA newborn screening and is working toward implementation, with a goal of screening beginning in the first quarter of 2020.

$67, 945 to the Washington Department of Health, Office of Newborn Screening

These funds will be used for staff training and time in order to conduct and validate the SMA screening assay. Additionally, funds will be used for laboratory supplies and equipment. The request by the Department of Health to the Governor’s office to increase the newborn screening fee to include SMA is the next step in the process. The legislature must create a supplemental budget, which updates the budget passed in the previous year. If each of the remaining steps go according to plan, the Department of Health expects to add screening for SMA during the fourth quarter of 2020.

$100,000 to the Arizona State Public Health Laboratory, Department of Newborn Screening

Funding from this grant will be used to purchase reagents and equipment necessary to run the SMA screening assay. Funding will also be used for to train staff to conduct the screening assay. On November 29, 2018, the Newborn Screening Advisory Committee recommended adding SMA to the testing panel. The recommendation is currently under review by the Director of the Arizona Department of Health Services. The Arizona legislature is expected to consider a newborn screening fee increase proposal, which would cover SMA screening costs, during its 2020 legislative session.

For more information about prior newborn screening grants, please see: https://curesma.wpengine.com/newborn-screening-state-grants-2019/

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