The Spring 2018 issue of Compass is now available online. The issue covers Cure SMA’s newborn screening efforts, including how NBS can help children diagnosed with SMA, the addition of SMA to the federal Recommended Uniform Screening Panel (RUSP), and state and federal advocacy efforts.
For a condition like SMA to become part of routine newborn screening, it must be submitted to the federal Recommended Uniform Screening Panel (RUSP). The process for including new conditions involves the submission of a nomination to the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), committee review and deliberation, a committee vote, and a final decision by the Secretary of the Department of Health and Human Services (HHS). For SMA, a nomination was submitted and reviewed and the ACHDNC provided a recommendation to include SMA in newborn screening. Now, the HHS Secretary has 120 days by federal law to issue a final decision based on this recommendation and, if positive, the HHS will send notices to states in support of the addition of SMA to state newborn screening panels. This is a significant milestone in the quest to have every infant born in the United States tested for the disease.
With an incidence of approximately one in 11,000, more than 360 infants will be born annually with 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. Data from both the ENDEAR and NURTURE trials, which each tested the efficacy of the treatment Spinraza (nusinersen) at different stages of disease development, were used to support the nomination of SMA to the RUSP.
While the addition of SMA to the RUSP is an important first step, each state must act to implement newborn screening for SMA. Throughout the nomination and review process, Cure SMA worked alongside advocates to educate state-level “SMA champions” across the country to ensure that this recommendation would be executed upon when the time came. With these resources, champions, and local advocates, Cure SMA will now work with state health leaders to ensure that all states include SMA in routine newborn screenings.