After significant collaborative work among many stakeholders in the spinal muscular atrophy (SMA) community, we are pleased to share that the Secretary of Health and Human Services (HHS), Dr. Alex Azar, has accepted the recommendation to add SMA to the Recommended Uniform Screening Panel (RUSP) for newborns. This is a landmark decision for the SMA community, recognizing both the importance of early diagnosis and intervention in newborns and the new therapeutic options to treat the disease. The addition of SMA to the RUSP follows a vote in February by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to add SMA to the list of disorders recommended for newborn screening.

“SMA now joins Pompe Disease as the second disorder in MDA’s program for which our federal advisory committee recommends all of the 4 million babies in our country be tested,” says MDA Chairman of the Board Dr. R. Rodney Howell. “The approved [SMA] medication is truly life-saving, and even more effective treatments are on the horizon. This is an exciting day for all the patients served by MDA.”

As an umbrella organization representing more than 40 different disorders, MDA is committed to promoting early screening, diagnosis and treatment for muscular dystrophy and other neuromuscular diseases, including Pompe and SMA, both of which are now on the RUSP. We are proud to be working collaboratively with the clinician, research and advocate community on screening efforts around these disorders, and look forward to facilitating the addition of new neuromuscular diseases to the RUSP as they are ready to meet the rigorous evidence review standards set out by the ACHDNC.

This is an important time for the SMA community. Including SMA on the recommended panel takes us one step closer to ensuring that every baby born with SMA will have access to life-changing and life-saving treatments even sooner.

What is newborn screening?

Newborn screening (NBS) is a program in the United States that tests newborns for a specific set of life-threatening genetic disorders for which there are currently treatments available. The NBS program is critical because with early identification and diagnosis, newborns can receive treatment earlier, which leads to improved outcomes.

To learn more about NBS and the importance of this public health program to the neuromuscular disease community, read our Q&A with Dr. Howell.

What happens next?

With the addition of SMA to the RUSP, the decision now goes to each state to consider including SMA in their individual screening panels. Although today’s decision is not binding on the states, they rely heavily upon the expert recommendations contained in the RUSP. For a current list of conditions tested for in your state’s screening panel, click here.

Learning more for better clinical outcomes and therapy development

Another important aspect of newborn screening for SMA is the ability to gather and understand critical data on how SMA impacts infants, which will help inform and drive improved clinical care while also fueling future therapy development. With one treatment already available for SMA and with others — including novel gene therapy approaches — in development, understanding SMA is key.

MDA supports a provider-entered neuromuscular observational research (MOVR) data hub that currently collects data at MDA Care Centers across the U.S., and that is being expanded to include additional clinic sites. This data hub collects longitudinal insights that are being applied to increase understanding of disorders, including SMA, and support regulatory science. With SMA’s addition to the RUSP, babies with SMA will be identified much earlier and we will have the opportunity to better understand and appreciate the disease by early monitoring in the clinical setting.

The same Care Center network and MOVR data hub also supports Duchenne muscular dystrophy (DMD) and related neuromuscular diseases, important disorders we hope will also one day be screened for at birth.

Looking forward

Today’s decision marks a critical turning point for early identification and treatment for babies born with SMA, but more work remains to be done, including that which is required to implement screening in each state and to ensure that federal funding for the newborn screening program nationwide is sufficient.

As scientific progress continues to accelerate, MDA is committed to NBS and to advocating for additional neuromuscular diseases to be added to the RUSP. With this week’s announcement, we are happy to see the neuromuscular disease community one step closer to this goal.

To learn more about NBS and how you can get involved, sign up to be an advocate here.

MDA’s National Resource Center: 833-ASK-MDA1