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Alberta Announces Pilot Project Screening for Neonatal Spinal Muscular Atrophy

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Alberta announced Wednesday that it will be the second state to screen all newborns for rare hereditary diseases starting next year.

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“Sorrow can swallow you entirely,” says Spinal Muscular Atrophy (SMA), which gradually destroys nerve cells in the brainstem and spinal cord that control the muscles used to speak, walk, breathe, and swallow. Said Jessica Janzen Olstad, who lost her son in.

“SMA is a stumbling block. At a government press conference, Mr. Olstad, executive director of the Love for Lewiston Foundation, is a breathtaking challenge,” he said. She called the announcement a “milestone.”

Her son, Lewiston Olstad, died before his six-month birthday in 2016, but symptoms such as dyspnea, decreased muscle tone, or no symptoms were nearly two months after birth. Did not appear until.

“Instead of asking why this happened and why Lewiston, we chose to ask. Newborn screening is our” so what now? “She said.

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Canadian Muscular Dystrophy has invested $ 366,000 in a pilot project in Alberta to add SMA screening to the state’s existing newborn screening program, which is currently testing 21 conditions.

Stacy Lintern, CEO of Canadian muscular dystrophy, said in a video at the conference that it would change the lives of babies born in this condition.

“Before newborn screening and treatment, babies born with SMA often failed to reach their second birthday. Evidence is clear. The earlier the diagnosis, the more options, treatment and supportive therapies are available. It will increase, “says Lintern.

Screening is done through blood spots taken from heel puncture wounds and helps speed up treatment before symptoms appear.

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Health Minister Tyler Shandro said at a news conference that the government would evaluate the effectiveness of SMA screening, but expects it to be publicly funded after the one-year pilot.

Dr. Dennis Bourman, director of genetics and genomics at Alberta Precision Laboratories, said infants tested positive would be referred to a specialist who could make a diagnosis.

According to Bulman, the state program did not screen for untreated conditions, so the new screening assumed that treatment was available.

January, state Announced to fund ZorgensmaGene replacement therapy, which costs $ 2.8 million on a case-by-case basis. Alberta also offers compensation for the genetically modified treatment Spinraza through a government-sponsored drug program.

Bulman estimated that screening could cost the state about $ 300,000 a year once it became publicly funded.

Ontario has introduced a pilot project SMA screening program It became part of the official screening panel of the state in January 2020, and last July.

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