No CrossRef data available.
Published online by Cambridge University Press: 10 July 2025
Background: Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 gene. Early diagnosis through newborn screening (NBS) and presymptomatic treatment optimize health outcomes. Methods: SMA-NBS began in Alberta on 28February2022. A multiplex quantitative PCR assay detected homozygous deletions of exon 7 in dried blood spot samples. Screen-positive infants underwent genetic confirmation by multiplex ligation-dependent probe amplification to determine SMN1/SMN2 copy numbers. We report clinical outcomes of SMA diagnoses through Alberta NBS over 3 years. Results: From 28February2022-31December2024, twelve infants were confirmed SMA positive, including two with 2 SMN2 copies and six with 3 SMN2 copies. Median age at initial positive screen was 6 days (range=3-9), and at diagnosis, 15 days (range=11-27). Seven infants (median age=29 days, range=18-142) received onasemnogene abeparvovec-xioi. Two received nusinersen (Day 22) or risdiplam (Day 72), followed by onasemnogene abeparvovec-xioi (Day 48 and 111, respectively). Two infants received risdiplam after 3 months of age. One infant was symptomatic at treatment initiation. Post-treatment evaluations showed ongoing motor milestone achievements. Conclusions: SMA incidence in Alberta during 2022-2024 was 8.2 (95%CI: 3.5-12.8) cases per 100,000 live births. Efforts continue to shorten age at treatment initiation, especially for those with two SMN2 copies, and to promote uniform coverage for 4-copy cases.