Funding Bolsters Effort to Bring Newborn Screening to Eastern Canada

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by Vanda Pinto, PhD |

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A CA$414,000 grant was awarded to the Maritimes by Muscular Dystrophy Canada (MDC) and Novartis Pharmaceuticals Canada to further support the implementation of newborn screening for spinal muscular atrophy (SMA).

The funding (about $322,600), received by the Maritime Newborn Screening Program (MNSP), will go toward work to overcome challenges that may arise while trying to add SMA to the newborn screening panel. MNSP, located in the IWK Health Centre, serves the provinces of this eastern Canadian region: Nova Scotia, New Brunswick, and Prince Edward Island.

Newborn screening is a method of checking for serious, but treatable, conditions by testing a few drops of blood collected from a baby’s heel shortly after birth. If the result is positive for SMA, further diagnostic testing will be performed by a neuromuscular specialist.

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“We’re [honored] to partner on work that will bring lasting impact to the SMA community and healthcare systems across Canada,” Andrea Marazzi, country pharma organization head of Novartis Pharmaceuticals Canada, said in a press release. “Time to diagnosis is crucial in SMA and we applaud the Maritimes for their commitment to prioritize screening at birth.”

SMA is caused by mutations in the SMN1 gene, which prevents or limits the production of SMN, a protein necessary for the health of motor neurons and muscles. Newborn screening tests for SMA check for the presence of SMN1 mutations. Early diagnosis is essential to stop the irreversible loss of motor neurons due to this disease.

In December 2020, MDC and Novartis Pharmaceuticals Canada initiated the process of evaluating, in the form of readiness assessments, the viability of adding SMA testing to all provincial and territorial screening panels. Proposals were then analyzed by an independent international peer review committee and, according to MDC, several experts endorsed the inclusion of SMA to newborn screening.

Additional details on the readiness assessment, selection of projects, review by experts, and community advisory committees can be found here.

“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. Sadly, most provinces are not yet screening for this treatable disorder,” said Stacey Lintern, CEO of MDC.

“I thank the healthcare leaders at MNSP, Novartis, the SMA community and MDC’s dedicated Board of Directors, Fire Fighters, clients, donors and supporters, for getting us another step closer to ensuring all Canadian newborns are screened for SMA,” Lintern added.

Newborn screening for SMA is currently only available in Ontario, but projects are ongoing to implement testing in Alberta and Manitoba, the MDC reported. Other phases of the national collaboration will include project funding, evaluation of projects and knowledge transfer, and exchange with stakeholders to ensure policy adoption across all provinces and territories.

Novartis markets Zolgensma, a gene therapy approved in Canada to treat children with SMA who have bi-allelic mutations in SMN1 — meaning both copies of the gene (one from each biological parent) are mutated — and who have three or fewer copies of SMN2, or who have infantile-onset SMA, also known as type 1 disease. The SMN2 gene can also produce some SMN protein, but not enough to compensate for the mutated SMN1.

Two other disease-modifying SMA therapies are also approved by Health Canada: Spinraza, by Biogen, an intrathecal (spinal canal) injection therapy given three times a year after an initial loading period; and Evrysdi, by Roche, a daily oral treatment. Both these therapies work through the SMN2 gene to raise SMN protein levels.