Alberta to screen babies for spinal muscular atrophy

Muscular Dystrophy Canada is providing $366,000 to Alberta Precision Laboratories to implement the test through a one-year pilot program starting in early 2022. The test will be added to Alberta’s Newborn Metabolic Screening Program, which currently screens newborns for 21 conditions. Treatment for spinal muscular atrophy is most effective before the onset of symptoms.

“Alberta’s government is committed – and I am personally committed – to doing everything we can for kids with this devastating disease. Expanding our screening program means specialists can identify it sooner and treat it sooner, and hopefully give more kids a chance at a full, healthy life. It’s one more way we are delivering on our commitment to strengthen our health system and make sure every family gets state-of-the-art care when they need it. Thanks so much to Muscular Dystrophy Canada and Alberta Precision Laboratories for supporting this life-saving work.”

“In a neuromuscular disorder like spinal muscular atrophy, where time is of the essence, early diagnosis and prompt access to treatments are critical to achieving the best possible outcomes. We commend the Province of Alberta and Alberta Precision Laboratories for stepping up for Alberta’s families and ultimately changing the lives of babies who will be diagnosed through screening in the future.”

Alberta was ranked as one of the highest for readiness among all provinces and territories not currently screening for spinal muscular atrophy.

“Adding spinal muscular atrophy to the Newborn Metabolic Screening Program will have a direct impact on the lives of babies born with this serious genetic condition, preventing long-term health complications and infant deaths through early detection and treatment before they show symptoms.”   

With the pilot, Alberta is expanding its Newborn Metabolic Screening Program that currently screens newborns for 21 conditions. The program is conducted through newborn blood spot screening collected from a heel prick to help find conditions that can be treated early. Early treatment can help prevent health problems, improve a baby's health and may even save a baby's life.

“Our family has been actively advocating for newborn screening of spinal muscular atrophy and we are absolutely thrilled to be another step closer to offering this critically important medical test. Through our personal journey, we have come to understand the importance of time and how earlier diagnosis and treatment can offer children with spinal muscular atrophy a more hopeful future.”

“We are tremendously grateful to our generous community who contributed more than $500,000 towards Dr. Mah’s research and getting this project off the ground. This expanded partnership is going to bring new hope to families and ultimately save lives.”

“Families of children living with spinal muscular atrophy want the very best care for their children. With the help of this new screening tool, children will receive the treatment they need sooner and when it is most effective.”

Quick facts

• Spinal muscular atrophy is a rare genetic condition that weakens muscles by affecting the motor nerve cells in the spinal cord. It is the leading genetic cause of infant mortality.
• Through the Newborn Metabolic Screening Program, Alberta Health determines which conditions are screened and Alberta Health Services delivers the program. Alberta Precision Laboratories analyzes the screening tests.
• The goal of the Newborn Metabolic Screening Program is to reduce morbidity and mortality among Alberta-born infants through timely screening and diagnosis.
• In 2020-21, more than 48,000 newborn babies born in Alberta were screened for 21 conditions.
  • 214 received an abnormal screen result and were referred for diagnostic testing and 57 of these babies were diagnosed and treated for one of the 21 screened conditions.
• The Love for Lewiston Foundation and the Alberta Children’s Hospital Foundation funded the launch of a spinal muscular atrophy newborn screening study in 2019, led by Dr. Jean Mah, a pediatric neurologist at the Alberta Children’s Hospital. Working in collaboration with researchers at the University of Calgary and the University of Alberta, this work laid the foundation for introducing spinal muscular atrophy newborn screening across the province.
• The spinal muscular atrophy screening test will become part of Alberta’s publicly funded Newborn Metabolic Screening Program after the one-year pilot program is completed.
• Alberta currently provides coverage for Spinraza (nusinersen), the first therapy marketed in Canada for patients with spinal muscular atrophy, through government-sponsored drug plans.
• Pre-symptomatic identification of infants with spinal muscular atrophy means they can access this treatment sooner and have the best chance for preserving their muscle function and slowing the progression of the disease.
• In January, Alberta announced interim funding of Zolgensma, a one-time gene therapy treatment with a cost of $3 million per dose, to treat pediatric spinal muscular atrophy.
  • Specialists may submit an application for access to Zolgensma on behalf of their patients for coverage to be considered during the interim period while the drug is under review and negotiation.