The newborn screening program at Cadham Provincial Laboratory in Manitoba, Canada, is expanding to include spinal muscular atrophy (SMA), according to an announcement from Audrey Gordon, the province’s health minister.

“Early diagnosis is the key to improving outcomes for babies born with metabolic, endocrine or genetic disorders such as spinal muscular atrophy,” Gordon said in a press release. “Our government is proud to work with our partners across the health-care system to expand the newborn screening program to include testing for SMA, because we know it is the first step in accessing treatment and ensuring the best outcomes for families.”

Gordon also noted that Manitoba’s provincial drug formulary recently added two treatments for SMA: the oral therapy Evrysdi (risdiplam) and the gene therapy Zolgensma (onasemnogene abeparvovec).

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Newborn screening, as the term implies, involves testing babies for diseases like SMA as soon as they are born. Screening for SMA involves looking for mutations in the SMN1 gene that cause the disease. An early diagnosis can facilitate early treatment, which generally leads to better clinical outcomes for patients.

“We are so happy and grateful that, going forward, no other family in Manitoba affected by SMA will have to experience the fear and pain of watching their child lose strength and abilities without knowing why, and the feeling of helplessness while searching for an answer,” said Maylia Bodman, whose daughter Braelynn has SMA.

“While there wasn’t treatment available when our daughter was diagnosed, we know that getting a diagnosis quickly also means timely access to treatment before symptoms start. This will both save lives and change lives. We sincerely thank everyone involved in this achievement for their effort and dedication in making this possible,” Bodman said.

The newborn screening program at Cadham Provincial Laboratory is one of the oldest of its kind, first started over five decades ago in 1965. It tests for more than 45 rare conditions, leading to early diagnoses and specialist care for more than a dozen babies in Manitoba every year.

The Manitoba government in its 2022 budget increased funding for the laboratory by CA$4.2 million (about $3.3 million) to support increases in screening volumes. The laboratory also is receiving CA$235,000 (about $185,000) over two years from Muscular Dystrophy Canada to support screening for SMA.

“In a neuromuscular disorder like SMA, where time is of the essence, early diagnosis and prompt access to treatments are critical to achieving the best possible outcomes,” said Stacey Lintern, CEO of Muscular Dystrophy Canada. “We commend the Province of Manitoba and Cadham Provincial Laboratory for changing the lives of families and babies who will be diagnosed through screening in the future.”

“Being able to expand our newborn screening program means faster, more accurate information and better options for Manitoba families,” added Paul Van Caeseele, medical director of the Cadham Provincial Laboratory, Shared Health. “SMA screening will diagnose babies before irreversible disease occurs and connect them to early care that will give them much greater opportunity to live active, healthy lives.”

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