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Updated: Jul 18, 2025

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
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Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.

Farshad Niri1,2, Jessie Nicholls2, Kelly Baptista Wyatt1,2

  • 1Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada.

International Journal of Neonatal Screening
|August 22, 2023
PubMed
Summary

Newborn screening for spinal muscular atrophy (SMA) using a novel qPCR assay effectively identifies affected infants. Early diagnosis and treatment via gene therapy or splicing modulators lead to excellent developmental progress in infants with SMA.

Keywords:
SMASMN1gene therapymultiplex qPCRnewborn screening

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene.
  • Early diagnosis and intervention are critical for improving outcomes in SMA patients.
  • Newborn screening (NBS) offers a window for pre-symptomatic detection and treatment.

Purpose of the Study:

  • To develop and implement a multiplex quantitative polymerase chain reaction (qPCR) assay for SMA detection using dried blood spots (DBS).
  • To evaluate the effectiveness of NBS for identifying SMA in newborns and facilitating timely treatment.

Main Methods:

  • A multiplex qPCR assay was developed to detect the homozygous absence of exon 7 in the SMN1 gene from DBS samples.
  • Positive screening results were confirmed using multiplex ligation-dependent probe amplification (MLPA) to determine SMN1 and SMN2 gene copy numbers.
  • Clinical evaluation and genetic testing were performed on newborns with abnormal screening results.

Main Results:

  • Over 47,000 newborns were screened, identifying six with abnormal results, five of whom were confirmed to have SMA.
  • Four SMA-affected infants received SMN1 gene replacement therapy before 30 days of age.
  • One infant received an SMN2 splicing modulator due to neutralizing antibodies, followed by gene therapy later.
  • All five treated infants demonstrated excellent developmental progress.
  • The estimated incidence of SMA in Alberta was 1 in 9401 live births.

Conclusions:

  • Multiplex qPCR assay on DBS is a reliable method for SMA newborn screening.
  • Early detection through NBS enables prompt initiation of life-changing therapies for SMA.
  • Timely treatment in the pre-symptomatic or early symptomatic stage significantly improves developmental outcomes for infants with SMA.