A Landmark Decision from HHS

This week, the Secretary of Health and Human Services (HHS) made a major announcement: Spinal muscular atrophy (SMA) has been added to the Recommended Uniform Screening Panel (RUSP) for newborns. This is truly a landmark decision for the SMA and wider neuromuscular community, as it highlights both the importance of early diagnosis and intervention in newborns and the breakthrough treatment recently approved to treat SMA.

SMA is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement. The age at which SMA symptoms begin roughly correlates with the degree to which motor function is affected: The earlier the age of onset, the greater the impact on motor function. Children who display symptoms at birth or in infancy typically have the lowest level of functioning.

Newborn screening is a program in the United States that tests all newborns for approximately 30 different life-threatening genetic disorders that currently have treatments. The screening process involves taking a small blood sample from a baby via a heel stick right after birth. The blood is then tested for the different conditions on the panel.

So why is the newborn screening program so critical? With early disease identification and diagnosis, newborns can receive expert clinical care and potentially life-changing treatment earlier, which leads to improved outcomes.

Identifying SMA in newborns will also help us better understand and appreciate the disease through early and sustained monitoring. From the moment of a child’s diagnosis, families will benefit from the strong follow-up and long-term care infrastructure in place to help support the SMA community through a nationwide network of more than 150 MDA Care Centers. More than 20 sites have SMA-specific clinics, along with other programs and services.

This week’s decision marks a critical turning point for early identification and treatment for babies born with SMA — but there is more work to do to encourage each state to implement screening. And as scientific progress continues to accelerate, MDA is committed to advocating for the addition of other neuromuscular diseases to the panel.

To learn more about newborn screening and its impact on the neuromuscular community, read a Q&A with newborn screening expert Dr. Rodney Howell, who also serves as chairman of MDA’s Board of Directors. You can also read a blog about the importance of the HHS’s decision to the SMA and MDA community here.