Today, the Advisory Committee on Heritable Disorders in Newborns and Children voted to recommend to the Secretary of Health and Human Services that spinal muscular atrophy (SMA) be added to the Recommended Uniform Screening Panel (RUSP), the national list that guides states on which diseases should be tested for at birth.
Newborn screening is essential for identifying at birth babies who have genetic disorders for which there are treatments. Early intervention is important to improved outcomes. MDA is committed to promoting early screening, diagnosis and treatment for multiple diseases, including Pompe, the only other disease under MDA’s umbrella currently on the RUSP.
We applaud the committee for its decision to support our efforts to add SMA to the RUSP, and we are proud to have worked collaboratively with the community of clinicians, researchers, families and advocates who have aligned in support of this critical effort to ensure that all babies born in the U.S. with SMA are identified as soon as possible so they can benefit from early treatment and intervention.
The next step is for the Secretary to make a decision on the committee’s recommendation. If SMA is added to the RUSP, each state will then need to take action to add SMA to their individual test panels — the process and timing of which varies from one state to the next.
Although the work to implement nationwide screening for SMA is not yet done, thanks to the committee’s vote today, there is now greater opportunity than ever before to ensure that life-saving and lifechanging therapies and interventional clinical care will be made available to newborns nationwide.
While identification is the pivotal first step, long-term care and follow-up for babies born with SMA is essential and is available through the MDA-supported network of more than 150 Care Centers across the nation that provide clinical care and access to support and services to individuals and families living with neuromuscular disease, including SMA. Many of the Care Centers, which are headed by some of the most respected experts and thought leaders in neuromuscular disease, also serve as sites for many of the clinical trials where potential therapies are investigated for SMA, muscular dystrophy and other disorders. Annually, thousands of individuals across the U.S. who are living with SMA receive support through MDA programs and efforts, and hundreds of individuals living with SMA have been treated with life-changing therapies in Care Centers across the country.