Legislation will help promote life-saving treatment of the leading genetic cause of death for infants under two years of age.
JEFFERSON CITY, Mo. – Governor Eric Greitens today signed into law Senate Bill 50, instituting newborn screening for spinal muscular atrophy (SMA). The bill will make Missouri the first state in the country to screen all newborns for SMA, the leading genetic cause of death for infants under two years of age. The bill also institutes statewide newborn screening for mucopolysaccharidosis type II (MPS II, also known as Hunter syndrome).
The legislation was sponsored by Representative Becky Ruth, a legislator with a longstanding commitment to expanding newborn screening efforts.
“Newborn screening, combined with early treatment, is the best chance we have to change the course of SMA for the next generation. We are thrilled that Missouri, through Representative Ruth’s leadership, has taken this important step,” said Kenneth Hobby, president of Cure SMA, a national non-profit organization that supports research and advocacy for SMA. “We envision Missouri becoming the model that other states can follow as we work to move SMA newborn screening forward.”
Spinal muscular atrophy is a neuromuscular disease caused by a mutation in the gene survival motor neuron 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.
In clinical trials for Spinraza, which was approved by the FDA in December 2016, infants treated before showing symptoms gained more motor milestones than those treated after showing systems. The most severe forms of SMA cause rapid motor neuron loss, providing a small window for optimal treatment—an opportunity often lost due to the diagnostic delays that many families experience.
“I am excited to know the impact that this will have for so many families,” said Grace Grutter, whose daughter, Nella, has SMA type I. Grutter, a Kansas City resident, testified before both the Missouri House and Senate in support of the newborn screening bill. “Since Nella has come into our lives, we’ve seen the difficult side of SMA, but we’ve also seen the joy and determination of our daughter as she battles SMA. We hope that, in working for efforts like this, we reflect a little bit of her joy and determination back on behalf of the SMA community.”
In May, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, part of the U.S. Department of Health and Human Services, announced that it had moved SMA into evidence review for inclusion on the federal Recommended Uniform Screening Panel (RUSP). Inclusion on the RUSP would be a significant step toward nationwide newborn screening for SMA, but the ultimate decision on implementation rests with each individual state.
During the six- to nine-month RUSP review period, Cure SMA and the SMA Newborn Screening Coalition will continue to work to support the RUSP application, encourage state-level pilot screening projects that could provide a template for broader screening programs, and promote state-specific advocacy efforts like those in Missouri.
About Cure SMA and the SMA Newborn Screening Coalition
Cure SMA is dedicated to the treatment and cure of spinal muscular atrophy (SMA)—a disease that takes away a person’s ability to walk, eat, or breathe. It is the number one genetic cause of death for infants.
Since 1984, Cure SMA has directed and invested in comprehensive research that has shaped the scientific community’s understanding of SMA. Cure SMA has deep expertise in every aspect of SMA—from the day-to-day realities to the nuances of care options—and administers a wide-ranging roster of programs to support children and families affected by the disease. This includes the Annual SMA Conference, held each year for families affected by the disease, and for researchers and clinicians involved in treatment and care for SMA.
In addition to staff members from Cure SMA, the SMA Newborn Screening Coalition includes representatives from pharmaceutical companies Biogen and AveXis.
Learn more at www.cureSMA.org.