Muscular Dystrophy Canada Funds Projects on Newborn SMA Screening

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by Mary Chapman |

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To better understand and address barriers to the implementation of newborn screening across Canada for spinal muscular atrophy (SMA), Muscular Dystrophy Canada (MDC) has awarded more than $700,000 to projects in three provinces.

This is the first round of awards to come from a collaboration between MDC and Novartis Pharmaceuticals Canada that began last year. Ultimately, $2 million will be invested in the multi-year initiative, which also will include ongoing support for the production of evidence and best practices needed to make newborn screening for SMA throughout Canada a reality. Currently, only Ontario conducts such screening.

Newborn screening, or NBS, is the process of testing newly born babies for serious but treatable conditions, such as SMA. The test usually assesses blood spots collected from a heel prick done shortly after a baby’s birth. If a test indicates SMA, the infant’s primary care provider will be instructed to consult a neuromuscular specialist, who will conduct diagnostic SMA testing.

“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. Unfortunately, this is not the reality for most Canadian children born with SMA,” Stacey Lintern, CEO of MDC, said in a press release.

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SMA screening tests for the presence of the SMN1, or survival motor neuron 1, gene. If results indicate that the gene is missing or significantly reduced in its signal, diagnostic testing is needed. Early diagnosis is crucial to halting irreversible motor neuron loss in SMA, the leading cause of genetic infant death. In recent years, three new therapies have been approved for the rare genetic condition.

“With today’s announcement and the unparalleled commitment of government leaders, Novartis, the SMA community and MDC’s dedicated board of directors, firefighters, clients, donors and supporters, we are one step closer to ensuring all Canadian newborns are screened for SMA,” Lintern said.

The newly awarded projects include pilot programs and the mapping of post-diagnosis referral avenues. To ensure that the funding was evidence-based, MDC and Novartis evaluated the feasibility of adding SMA to every provincial and territorial screening panel. Subsequently, proposals were assessed by an independent international peer review committee, with MDC’s guidance.

“As the mother of an infant with SMA who was not screened at birth, I know firsthand the devastating implications of a delayed diagnosis,” said Laura Van Doormaal, a member of the organization’s Newborn Screening Advisory Committee.

“Today’s announcement means that one day soon, no matter where they live, all families will have the opportunity to make critical healthcare decisions and realize their child’s full developmental potential from the very beginning,” Van Doormaal said.

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In the future, the collaboration will include more funding, evaluation of projects, knowledge sharing, and outreach to stakeholders.

“Our collaboration with Muscular Dystrophy Canada truly exemplifies the Novartis purpose of improving and extending patients’ lives,” said Andrea Marazzi, country head of Novartis Pharmaceuticals Canada. “We’re honored to partner on work that will bring lasting impact to the SMA community and healthcare systems across Canada.”

“Time to diagnosis is crucial in SMA and we applaud the first round of funding recipients and all engaged provinces for their commitment to prioritize screening at birth,” Marazzi added.

Novartis produces the one-time gene therapy SMA treatment Zolgensma, which is approved for babies and young children up to 21 kg (about 46 pounds) in Canada and the European Union. The treatment is approved in the U.S. to treat all types of SMA in newborns and toddlers up to age 2.