SMA is a leading genetic cause of death in infants and toddlers. Two years ago, newborn screening for SMA was recommended in the United States and today over half of states have adopted screening. The federal committee that recommended screening estimated that screening could prevent about 50 infants from needing a ventilator and about 30 deaths due to SMA Type I. Cure SMA, a non-profit organization dedicated solely to eradicating SMA by promoting and supporting research, played an important role the recommendation of screening for SMA.
To facilitate the adoption of new conditions, including SMA, to nationwide screening, the Newborn Screening Translational Research Network (NBSTRN) hosts monthly webinars where information is shared between newborn screening state pilot programs, researchers, clinicians, parents and advocates. On the September 3rd, 2020 webinar, Cure SMA’s Chief Medical Officer, Dr. Mary Schroth will present an update on SMA screening. In addition to her leadership at Cure SMA, Dr. Schroth is also a pediatric pulmonologist and Professor Emeritus of Pediatrics at the University of Wisconsin School of Medicine and Public Health.
To learn more about the CURE SMA mission, NBSTRN interviewed Dr. Schroth.
What is SMA and the different types?
CURE SMA: Spinal muscular atrophy (SMA) is an autosomal recessive progressive and degenerative neuromuscular disease. SMA is the number one genetic cause of death for infants—robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. SMA is caused by deletion or mutation of 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 our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal weakness of muscles used for breathing, crawling, walking, head and neck control, and swallowing.
There are four primary types of SMA, based on the age of symptom onset and highest physical milestones achieved. SMA symptoms can present within the first 6 months of life (non-sitters/Type 1, the most severe and common, accounting for approx. 60% of cases); symptoms can develop between 6 and 18 months of age (Type 2/sitters); and after 18 months of age (Type 3/walkers). Adult onset is SMA type 4 and the least common form. See our SMArt Moves Resource to learn more about the early warning signs of SMA. Early treatment for SMA is changing the natural history of SMA and categorization by Type is becoming less relevant to describe treated SMA.
Can you tell us about the organization CURE SMA? (how and why it was formed? what are the organizational mission and goals)
CURE SMA: Cure SMA is dedicated to the treatment and care of spinal muscular atrophy (SMA). Since 1984, Cure SMA has grown to be the largest network of individuals, families, clinicians, and research scientists working together to advance SMA research, support people living with SMA, and educate public and professional communities about SMA. The organization has directed and invested in comprehensive research that has shaped the scientific community’s understanding of SMA, led to breakthroughs in treatment and care, and provided individuals and families the support they need today. Cure SMA’s work will continue to change the course of SMA for everyone affected—from infants to adults.
If an individual is identified with SMA, what are the steps in treating and managing the condition?
CURE SMA: When an infant screens positive for SMA or has symptoms suggestive of SMA, this is a clinical emergency. The recommendation is to refer the infant urgently to a neuromuscular care center knowledgeable in SMA treatment options and care of people with SMA. Confirmatory testing is completed for SMA gene mutation which includes homozygous deletion of SMN1 and SMN2 copy number. Treatment options are discussed with the family and offered. Currently there are 2 FDA-approved treatments for infants with SMA, Spinraza and Zolgensma. Treatment should be started as soon as confirmatory testing and pretreatment testing are completed. Best outcomes are associated with early pre-symptomatic treatment. Follow up with a multidisciplinary team experienced in the care of SMA will provide the best outcomes.
How is newborn screening for SMA conducted?
CURE SMA: NBS for SMA starts with a heel stick shortly after birth. DNA from that blood spot is used in a PCR assay. This assay looks for the presence or absence of the SMN1 gene. Infants with SMA will have no copies of the SMN1 gene
How many states are screening for SMA?
CURE SMA: Cure SMA has made implementation of universal screening of SMA a top priority. It is a complex issue, requiring action at both the state and federal levels. The federal government recommends screening to states via the Recommended Uniform Screening Panel (RUSP), but implementation ultimately rests with each state.
Thanks to the advocacy of individuals and families impacted by SMA and the leadership of state officials, 32 states have implemented newborn screening of SMA, representing nearly 7 in every 10 babies born in this country (as of August 26, 2020). Despite the progress in screening newborns for SMA, the U.S. remains well short of the goal of 100 percent universal newborn screening of SMA. Several states are still not screening babies born in their state for the leading genetic cause of death among infants.
If a state is not currently screening for SMA, what can individual do to help?
CURE SMA: Newborn screening would eliminate the diagnostic delay of SMA and allow babies to begin treatment shortly after birth—before significant motor neuron loss occurs. There is clear clinical evidence that SMA treatments and care are more effective when delivered early and pre-symptomatically. Advocacy is critical in advancing SMA-related policies, like newborn screening, and bringing the voices of those individuals impacted by SMA is incredibly important when reaching out to lawmakers who can have an impact on the community. To help with this effort, Cure SMA has set up state-specific Action Alerts to allow residents of non-screening states to send personalized letters to state leaders in support of newborn screening for SMA.
Can you share any recent initiatives and events sponsored by CURE SMA?
CURE SMA: Cure SMA is committed to supporting our families, researchers, and healthcare providers. Cure SMA has developed a COVID-19 Information Center that includes many resources for families and providers related to COVID-19. Additionally, Newly diagnosed families and individuals receive an information packet and care package upon contacting Cure SMA.
Cure SMA hosts the Annual SMA Conference and multiple educational events for families and providers throughout the year. We invite our entire community to join us for our Summit of Strength webinar series. Educational opportunities for healthcare providers, including opportunities for CE/CME credit, can be found on our Educational Opportunities for Providers page. Cure SMA is excited to have the opportunity to present at the upcoming NBSTRN webinar on Thursday, September 3rd.
What’s the best way for people to be involved with CURE SMA mission?
Please join us for webinar on CURE SMA
Presentation Title: Cure SMA and Spinal Muscular Atrophy Newborn Screening
Speaker: Mary Schroth, MD, Chief Medical Officer at Cure SMA
When: Sep 3, 2020 02:00 PM Eastern Time (US and Canada)
To register for the webinar, email at firstname.lastname@example.org
This project is funded in whole or in part with Federal funds from the NICHD, National Institute of Health, Department of Health and Human Services, under Contract No. HHSN275201800005C.