{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T05:56:13Z","timestamp":1783144573309,"version":"3.54.6"},"reference-count":35,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,7,27]],"date-time":"2023-07-27T00:00:00Z","timestamp":1690416000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000223","name":"Muscular Dystrophy Canada\u2019s Newborn Screening for Spinal Muscular Atrophy in Canada","doi-asserted-by":"publisher","award":["N\u00b0PR038-1"],"award-info":[{"award-number":["N\u00b0PR038-1"]}],"id":[{"id":"10.13039\/501100000223","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000223","name":"Muscular Dystrophy Canada\u2019s Newborn Screening for Spinal Muscular Atrophy in Canada","doi-asserted-by":"publisher","award":["ACHF19-0601"],"award-info":[{"award-number":["ACHF19-0601"]}],"id":[{"id":"10.13039\/501100000223","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Alberta Children\u2019s Hospital Foundation","award":["N\u00b0PR038-1"],"award-info":[{"award-number":["N\u00b0PR038-1"]}]},{"name":"Alberta Children\u2019s Hospital Foundation","award":["ACHF19-0601"],"award-info":[{"award-number":["ACHF19-0601"]}]},{"name":"Novartis Canada","award":["N\u00b0PR038-1"],"award-info":[{"award-number":["N\u00b0PR038-1"]}]},{"name":"Novartis Canada","award":["ACHF19-0601"],"award-info":[{"award-number":["ACHF19-0601"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic\/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene. Early diagnosis via newborn screening (NBS) and pre-symptomatic treatment are essential to optimize health outcomes for affected individuals. We developed a multiplex quantitative polymerase chain reaction (qPCR) assay using dried blood spot (DBS) samples for the detection of homozygous absence of exon 7 of the SMN1 gene. Newborns who screened positive were seen urgently for clinical evaluation. Confirmatory testing by multiplex ligation-dependent probe amplification (MLPA) revealed SMN1 and SMN2 gene copy numbers. Six newborns had abnormal screen results among 47,005 newborns screened during the first year and five were subsequently confirmed to have SMA. Four of the infants received SMN1 gene replacement therapy under 30 days of age. One infant received an SMN2 splicing modulator due to high maternally transferred AAV9 neutralizing antibodies (NAb), followed by gene therapy at 3 months of age when the NAb returned negative in the infant. Early data show that all five infants made excellent developmental progress. Based on one year of data, the incidence of SMA in Alberta was estimated to be 1 per 9401 live births.<\/jats:p>","DOI":"10.3390\/ijns9030042","type":"journal-article","created":{"date-parts":[[2023,7,28]],"date-time":"2023-07-28T02:08:00Z","timestamp":1690510080000},"page":"42","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Alberta Spinal Muscular Atrophy Newborn Screening\u2014Results from Year 1 Pilot Project"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6238-691X","authenticated-orcid":false,"given":"Farshad","family":"Niri","sequence":"first","affiliation":[{"name":"Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessie","family":"Nicholls","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Baptista Wyatt","sequence":"additional","affiliation":[{"name":"Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Walker","sequence":"additional","affiliation":[{"name":"Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiffany","family":"Price","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhonda","family":"Kelln","sequence":"additional","affiliation":[{"name":"Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3217-3032","authenticated-orcid":false,"given":"Stacey","family":"Hume","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of British Colombia, Vancouver, BC V6H 3N1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian","family":"Parboosingh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1981-5851","authenticated-orcid":false,"given":"Margaret","family":"Lilley","sequence":"additional","affiliation":[{"name":"Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Kolski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ross","family":"Ridsdale","sequence":"additional","affiliation":[{"name":"Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Muranyi","sequence":"additional","affiliation":[{"name":"Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5795-9955","authenticated-orcid":false,"given":"Jean K.","family":"Mah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis E.","family":"Bulman","sequence":"additional","affiliation":[{"name":"Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"},{"name":"Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Mercuri, E., Sumner, C.J., Muntoni, F., Darras, B.T., and Finkel, R.S. 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