Biogen Canada investment in newborn screening study underlines commitment to research in spinal muscular atrophy (SMA)
- Early identification of babies before symptoms appear essential to support appropriate disease management
Mississauga, Ontario, Canada, August 25, 2020 – As pioneers in neuroscience, with a deep commitment to furthering research for spinal muscular atrophy (SMA) and the SMA community we proudly serve, Biogen Canada Inc. has invested in a newborn screening study at CHEO, a pediatric health and research centre in Ottawa, to evaluate the impact of adding testing for SMA to Ontario’s newborn screening protocol.
Newborn screening would help with early detection of the potentially fatal genetic condition and allow for intervention in the first few weeks of life when it can be most impactful. Over a year, it is projected that approximately 15 babies in Ontario could be identified through the SMA screening program and referred to specialized centres for follow-up.1
Babies with the most severe form of SMA experience gradual decrease in the mass and strength of muscles that affects activities such as sitting up and controlling head movement, and it can also impact breathing and swallowing.2 SMA is the leading genetic cause of deaths in infants.3 It is estimated that one in every 50 people may be genetic carriers of the abnormal gene that causes SMA.4 If both parents are genetic carriers, there is a one in four chance that SMA could be passed onto a child.5
“Biogen Canada is proud to be part of this valuable study to support the addition of SMA to provincial newborn screening programs and of early detection of SMA in babies that may not have otherwise been discovered until after symptoms present,” said Marina Vasiliou, Managing Director of Biogen Canada Inc. “Newborn screening for SMA could make a significant difference for those babies who are diagnosed early. So many parents spend months wondering why their child is not meeting certain milestones. Knowing what they are dealing with before symptoms appear gives them a head start towards the best possible outcome.”
The pilot study with CHEO was undertaken between January and July this year to assess the addition of SMA to the Ontario newborn screening program which collects blood from the heel prick performed on all Ontario newborns that tests for a panel of serious but treatable diseases. More than 75,000 newborns were tested for SMA between January and July this year as part of the pilot and four screen positive patients were identified and were immediately referred for further evaluation. Conducting this important pilot study to prospectively screen Ontario newborns is an essential step towards identifying babies at birth. Early intervention before SMA symptoms arise has the potential to improve the lives of many families.6
“With the arrival of effective disease-modifying SMA therapy, we are now looking at early pre-symptomatic diagnosis of newborns for whom such treatment can truly make a profound difference,” Dr. Alex MacKenzie, a pediatrician at CHEO, a principal investigator at the CHEO Research Institute and a professor in the Department of Medicine at the University of Ottawa. “We are grateful to Biogen for seeing this reality so clearly, supporting our research, and catalyzing the possibility of population-wide SMA screening for all Canadian newborns.”
The latest results from the ongoing NURTURE study demonstrate the benefits of treating infants who tested positively for the genetic markers of SMA before symptoms were apparent. At the time of evaluation, all 25 participants treated in the study were alive, without the need for permanent ventilation and experienced continuous improvements, with the majority achieving motor milestones in timelines consistent with normal development. The results also demonstrated durability of effect, with children making progress throughout the study. In infants genetically diagnosed with SMA, the NURTURE study demonstrates that early and sustained treatment with SPINRAZA (nusinersen) for up to 4.8 years enabled unprecedented survival in comparison to the natural history of this disease.7 In Canada, SPINRAZA is indicated for the treatment of 5q Spinal Muscular Atrophy (SMA).
About Newborn Screening
Newborn screening is a test done shortly after a baby is born to look for a variety of treatable diseases that generally show no symptoms in the newborn period. It is done by provincially mandated organizations across Canada. Health-care providers in the provinces work to make sure that every baby born is offered newborn screening and that every baby who has one of the diseases screened for receives appropriate treatment.
About Spinal Muscular Atrophy (SMA)
SMA is a rare, debilitating neurodegenerative condition that is characterized by loss of motor neurons in the spinal cord and lower brain stem, resulting in severe and progressive muscular atrophy and weakness.
SMA is the leading genetic cause of death among infants. It is estimated that 1 in 10,000 live births are affected by SMA. Untreated, children with the most severe form of SMA (Type 1 or infantile-onset SMA) rarely live to see their second birthday.
Due to a deletion of, or mutation in, the SMN1 gene, people with SMA do not produce enough survival motor neuron (SMN) protein, which is critical for the maintenance of motor neurons.8 The severity of SMA correlates with the amount of SMN protein an individual has. Ultimately, individuals with SMA can become paralyzed and have difficulty performing the basic functions of life, like breathing and swallowing.
People with Type I SMA, the form that requires the most intensive and supportive care, produce very little SMN protein and do not achieve the ability to sit without support or typically live beyond two years without respiratory support. People with Type II and Type III SMA produce greater amounts of SMN protein and have less severe, but still life-altering forms of SMA.
At Biogen, our mission is clear: we are pioneers in neuroscience. Biogen discovers, develops, and delivers worldwide innovative therapies for people living with serious neurological and neurodegenerative diseases as well as related therapeutic adjacencies. One of the world’s first global biotechnology companies, Biogen was founded in 1978 by Charles Weissmann, Heinz Schaller, Kenneth Murray, and Nobel Prize winners Walter Gilbert and Phillip Sharp. Today, Biogen has the leading portfolio of medicines to treat multiple sclerosis, has introduced the first approved treatment for spinal muscular atrophy, commercializes bioimilars of advanced biologics and is focused on advancing neuroscience research programs in multiple sclerosis and neuroimmunology, Alzheimer’s disease and dementia, neuromuscular disorders, movement disorders, ophthalmology, immunology, neurocognitive disorders, acute neurology and pain. To learn more, please visit www.biogen.ca and follow us on social media: Twitter, LinkedIn, Facebook, YouTube.
1 Newborn Screening Ontario, SMA Screening Results. Available at: https://www.newbornscreening.on.ca/en/page/sma-screening-results
2 National Institutes of Health (NIH) Genetics Home Reference. Spinal muscular atrophy. Available at: https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy#inheritance
3 Boston Children’s Hospital, Spinal muscular atrophy (SMA). Available at: http://www.childrenshospital.org/conditions-and-treatments/conditions/s/spinal-muscular-atrophy-sma
4 Sugarman EA, et al. Eur J Hum Genet. 2012;20:27-32. and Prior TW, et al. Obstet Gynecol Clin North Am. 2010;37:23-36
5 Together in SMA Canada. How is spinal muscular atrophy inherited?Available at: https://care.togetherinsma.ca/en_CA/home/introduction-to-sma/smn1-gene.html
6 De Vivo, DC. et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscular Disorders. 2019;29(11): 819-912.
7 Data on file. Biogen, Cambridge, MA. Reported publicly: https://www.globenewswire.com/news-release/2020/06/10/2046158/0/en/New-Results-From-Landmark-NURTURE-Study-Show-That-Pre-Symptomatic-SMA-Patients-Treated-With-SPINRAZA-nusinersen-Continue-to-Demonstrate-Sustained-Benefit-From-Treatment.html
8Lefebvre et al., Identification and Characterization of a Spinal Muscular Atrophy-Determining Gene. Cell, 1995 Jan 13;80(1):155-65.