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. 2025 Oct 5;11(4):89.
doi: 10.3390/ijns11040089.

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience

Emilie Groulx-Boivin  1   2 , Ariane Belzile  2 , Cam-Tu Émilie Nguyen  3 , Amélie Gauthier  3 , Nicolas Chrestian  4 , Catherine Michaud-Gosselin  4 , Yves Giguère  5   6 , Marie-Thérèse Berthier  6 , Jean-François Soucy  7   8 , Anne-Marie Laberge  7 , Maryam Oskoui  1   2
Affiliations

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience

Emilie Groulx-Boivin et al. Int J Neonatal Screen. .

Abstract

Clinical trials in spinal muscular atrophy (SMA) have shown that early treatment improves outcomes, prompting inclusion in newborn screening (NBS) programs worldwide. The province of Quebec launched its SMA NBS program in October 2023, with a rapidly progressive implementation. We describe the program's first-year experience, focusing on screening yield, birth prevalence, clinical outcomes, and challenges. In the first year, 6 of 67,933 newborns screened positive for SMA, all subsequently confirmed by diagnostic testing. Of these, 4 newborns (67%) had two SMN2 copies and 2 newborns (33%) had four copies. Additionally, one symptomatic compound heterozygote infant presented during this period, indicating a provincial birth prevalence of 1 in 9705 live births (95% CI: 1:20,032-1:4701). Two newborns with two SMN2 copies were symptomatic at initial consultation; one transitioned to palliative care and died at 43 days of life. Surviving newborns initiated treatment at a median age of 30 days (range: 9-103 days), with four receiving onasemnogene abeparvovec and one nusinersen. Motor outcomes at three or six months were stable or improved among treated infants. Overall, the Quebec SMA NBS pilot program successfully identified affected newborns, facilitated early access to therapy, and provided the first provincial estimate of SMA birth prevalence. Improved sample shipping and processing times are needed to maximize the program's impact, which is expected with full automation.

Keywords: Canada; SMN2; genetic disorder; newborn screening; pediatric; spinal muscular atrophy.

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Conflict of interest statement

C.-T.É.N. was a sub-investigator for the CHERISH clinical trial: nusinersen in SMA 2, and the principal investigator at CHU Sainte-Justine (CHUSJ) for Catabasis Pharmaceuticals’ Phase III Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy (PolarisDMD). C.-T.É.N. is a sub-investigator at CHUSJ for PTC’s A Study to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Participants With Friedreich Ataxia (MOVE-FA), and interprets nerve conduction studies for the TAYSHA gene therapy trial in Rett syndrome at CHUSJ. M.-T.B. is a member of the Canadian Newborn Screening group. Y.G. is the Director of the Quebec Newborn Screening Program and a member of the Advisory Committee for the Quebec Newborn Screening Program. Y.G. sits on the Newborn Screening Working Group of the Canada’s Drug Agency (CAD). A.-M.L. is Chair of the Advisory Committee for the Quebec Newborn Screening Program. The institution of M.O. has received research support from Hoffmann-La Roche Ltd., Santhera, Novartis, Muscular Dystrophy Canada, the Canadian Institutes of Health Research. M.O. has a non-compensated relationship as a Member of the Medical and Scientific Advisory Committee with Muscular Dystrophy Canada. The authors E.G.-B., A.B., A.G., N.C., C.M.-G. and J.-F.S. declare no conflicts of interest.

Figures

Figure 1
Figure 1
Course of CHOP-INTEND score over time for newborns with two SMN2 copies (N = 3) and four SMN2 copies (N = 1). Model based healthy control with 95% CI CHOP-INTEND [18]: Children’s Hospital of Philadelphia Infant Neurological Test Neuromuscular Disorders, SMN2: Survival motor neuron 2 gene.
Figure 2
Figure 2
Number of days between key steps in the diagnostic and treatment process for newborns with SMA, relative to targets set by the PQDNS. Time intervals are reported as mean/median number of days. Of note, the confirmatory sample is typically collected at the time of the first clinic consultation; these two time points therefore coincide and are considered interchangeable. PQDNS: Programme québécois de dépistage néonatal sanguin (Québec Newborn Screening Program). a Target for ≥90% of samples, in business days. b Target for ≥99% of samples, in business days. c Target for 100% of newborns with a positive screen, in business days. d Target for 95% of newborns with SMA, in calendar days. e Target for 99% of newborns with SMA.
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