Many States Now Screening Newborns for Spinal Muscular Atrophy; Others Considering Action in 2020
State legislation to help families of newborns with spinal muscular atrophy (SMA) access timely treatments and care for their children will be considered during 2020 state legislative sessions, while other SMA screening policy is likely next year through executive and other action.
SMA is an inherited disease caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control the muscles. Without it, those nerves cannot properly function and eventually die, leading to debilitating and often fatal weakness in muscles used for breathing, crawling, walking, head and neck control, and swallowing. SMA symptoms can surface within the first 6 months of life (Type 1, the most severe and common), during the toddler years (Types 2 and 3), or in adulthood (Type 4, the least common form). SMA affects 1 in 11,000 births in the United States each year, and approximately 1 in 50 Americans is a genetic carrier.
New SMA treatments provide great benefit for individuals with SMA of all types. The U.S. Food and Drug Administration (FDA) has approved two treatments for SMA, Spinraza (Biogen) in late 2016 and Zolgensma (AveXis/Novartis) in mid-2019. In November 2019, a third treatment, Risdiplam (Genentech), received FDA priority review consideration, with a decision on its approval expected in mid-2020.
Clinical trials of these treatments have demonstrated unprecedented developmental milestones, such as sitting, standing, and walking for Type 1 infants, and significant improvements in motor functions for individuals with SMA of all types. These treatments are most effective when delivered early and pre-symptomatically, clinical data shows. In addition, data indicates that motor and developmental gains are sustained, which could lead to reduced future need for intensive health care and specialized supports, such as ventilators.
Early diagnosis is key to ensuring timely access to available SMA treatments and supports. After their 16-month-old daughter died in 2014 from complications related to SMA, a Maryland family had their newborn son tested immediately after his 2015 birth, before potential SMA symptom were apparent. SMA is an autosomal recessive disease, which means that an affected person has two missing genes for SMA, one from each parent. When two carriers of the SMA mutation have a child, there is a 25 percent chance that the child will have SMA. Their son’s blood test came back positive for SMA and the family was devastated.
With their daughter, who was diagnosed at 6 months of age, there were no signs of SMA at birth, but the parents felt that something was not quite right. Developmental concerns continued, which the family raised at their daughter’s 4-month-old check-up. “She wasn’t holding her head up well and hadn’t rolled over. She just seemed weak.” The family was referred to a specialist and, following a test, learned that their daughter had SMA.
Fortunately for the family, several promising SMA developments had emerged in the short time between the births of their two children with SMA.
Following his pre-symptomatic diagnosis, their son participated in a clinical trial and received treatment before he turned 1-month-old. By age two, he was independently walking and talking. Today, at age 4, he runs, climbs—including staircases with handrails—and regularly practices on his balance bike. He loves being loud, making people laugh, and hanging out with his other siblings. SMA continues to impact his life, including wearing a compression vest twice a day, but his early diagnosis and treatment have led to remarkable improvements. “We have celebrated milestone after milestone,” his mother said. “We prayed for a miracle and are watching it unfold for our son.”
The U.S. Department of Health and Human Services (HHS) took an important step in the summer of 2018 toward advancing early diagnosis of SMA. HHS Secretary, Alex Azar, approved the recommendation that states should test all newborns for SMA. However, each state has its own process for adding a condition to its newborn screening program.
Since the 2018 federal recommendation, 18 states have started screening newborns for SMA, through either a permanent or pilot program. Those state include: Georgia (pilot), Indiana, Kansas (pilot), Kentucky, Maryland, Massachusetts (pilot), Michigan (pilot), Minnesota, Mississippi, Missouri, New York, North Carolina (pilot), Ohio (pilot), Pennsylvania, Utah, Vermont, West Virginia, and Wisconsin. The remaining states are in various stages of SMA adoption or implementation.
“With the support and leadership of state policymakers and officials, we’ve made tremendous progress toward our goal of nationwide SMA newborn screening,” said Kenneth Hobby, President of Cure SMA, the leading organization dedicated to funding research, promoting access to treatments and care, and finding a cure for SMA. “We expect another dozen or so states to begin SMA screening in 2020.”
The upcoming 2020 legislative sessions are key to continuing progress toward nationwide SMA newborn screening implementation. Cure SMA is working actively in states that hold legislative sessions next year to advocate for SMA screening action. “Local individuals and families impacted by SMA are committed to getting their states to implement SMA screening of newborns. This important collaboration is improving and saving lives,” Hobby added.
For more information about SMA or to learn how Cure SMA can help, visit www.curesma.org.