SMA screening is now available to all newborns in Canada
Adding disease was result of a three-year effort by MDC in provinces, territories
Newborn screening for spinal muscular atrophy (SMA) is now available to all babies born in Canada.
The milestone announcement from Muscular Dystrophy Canada (MDC) means babies will be tested weeks after birth for SMA to allow prompt access to treatment, before symptoms appear and irreversible damage occurs, increasing the odds for better outcomes.
“Early diagnosis and effective treatment are critical to achieving the best possible outcomes for babies born with this neuromuscular condition,” Pranesh Chakraborty, MD, chief of the department of Pediatrics at Children’s Hospital of Eastern Ontario, said in a press release. “Historically, most infants and children with SMA would have been diagnosed only after they have developed weakness and respiratory difficulty, at a time when most of their motor neurons have been irretrievably lost. Now, instead of facing life-limiting disability and, in the most severe cases, a life expectancy of less than two years, babies affected by SMA every year in Canada shall be diagnosed within the first weeks of life, allowing them to rapidly receive therapy and improved outcomes.”
Chakraborty also serves as the chair of the department of pediatrics at the Faculty of Medicine, University of Ottawa.
What is newborn screening for SMA?
Newborn screening involves testing babies for diseases as soon as they are born. Screening for SMA is conducted on a blood sample collected via a heel prick to look for mutations in the SMN1 gene that cause the disease.
The addition of SMA to newborn screening panels across Canada was the result of a three-year effort by the MDC with each Canadian province and territory. In 2020, only Ontario and the Baffin region in Nunavut conducted SMA newborn screening. The new measure will ensure all families, irrespective of where they live, will have access to prompt diagnosis and early care.
“It is a tremendous accomplishment to start improving early detection and prevention, one of the goals outlined in Canada’s Rare Disease Strategy. However, this success was only possible because of the willingness of provincial and territorial governments to work alongside Muscular Dystrophy Canada to add SMA to newborn screening. This is a significant step forward and we hope it leads to the inclusion of other neuromuscular conditions on screening panels,” said Stacey Lintern, CEO at MDC.
Early detection and diagnosis lets babies receive disease-modifying treatments that will significantly increase their breathing and motor control functions, including their ability to move independently. Three disease-modifying SMA treatments are currently available: the gene therapy Zolgensma (onasemnogene abeparvovec-xioi), Spinraza (nusinersen), and Evrysdi (risdiplam).
“I could not imagine what our life would look like if my daughter were not given genetic, SMA testing at birth,” said Taylor Diakew, the mother of a 2- year-old with SMA. “Today, thanks to her early diagnosis and quick access to treatment, she is a happy, healthy little girl who does not exhibit any signs of SMA — she is walking, running, climbing, and talking like any child her age. Thanks to SMA newborn screening, she can live the best life possible.”
“This initiative holds immense value for the entire Canadian neuromuscular and rare disease community, laying the groundwork for future transformative and life-changing initiatives,” said Homira Osman, PhD, vice president of research and public policy at MDC. “There are many progressive neuromuscular disorders where time is of the essence: early diagnosis and prompt access to treatments are critical drivers to achieving the best possible outcomes. Muscular Dystrophy Canada will now leverage the knowledge and findings gained from this initiative to ensure other neuromuscular disorders are included in newborn screening programs nationwide.”
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