@article{c8d2b6c8389c4a65b040f1e3bfe2ca90,
title = "Newborn screening for SMA in Southern Belgium",
abstract = "Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and the societal burden of SMA-related disability, the implementation of a newborn screening program is warranted. We describe the stepwise process that led us to launch a newborn screening program for SMA in Southern Belgium. Different political, ethical, and clinical partners were informed about this project and were involved in its governance, as were genetic and screening labs. We developed and validated a newborn screening method to specifically recognize homozygous deletions of exon 7 in the SMN1 gene. Subsequently, a 3-year pilot study has been recently initiated in one Belgian neonatal screening laboratory to cover 17.000 neonates per year. Coverage extension to all of Southern Belgium to screen 55.000 babies each year is underway. (C) 2019 Elsevier B.V. All rights reserved.",
keywords = "Spinal muscular atrophy, Werdnig-Hoffmann disease, Newborn screening, SMN1, qPCR, SPINAL MUSCULAR-ATROPHY, SHAM CONTROL, NUSINERSEN, MECHANISMS",
author = "Francois Boemer and Jean-Hubert Caberg and Vinciane Dideberg and Domien Dardenne and Vincent Bours and Mickael Hiligsmann and Tamara Dangouloff and Laurent Servais",
note = "Funding Information: Ethical approval (reference B412201734396) was obtained from the Institutional Review Board (Ethical Committee of the hospital CHR Citadelle, Li{\`e}ge, Belgium), in compliance with the Declaration of Helsinki. All patients or guardians gave informed consent to participate in the study. LS is member of Biogen, AveXis, Roche and Cytokinetics Scientific advisory boards and has provided consultancy to Roche, Avexis and Biogen. The other authors have no financial disclosures relevant to this article. The authors declare that they have no competing interests. This pilot study is supported by Biogen, AveXis, and the ABMM (Association Belge contre les Maladies neuro-Musculaires), Minister's Office Alda GREOLI (Wallonia-Brussels Community), Authors thank the paramedical team of the Neuromuscular Center at CHR Citadelle and the technical team of the Biochemical Genetics Laboratory at CHU Liege. Funding Information: This pilot study is supported by Biogen, AveXis, and the ABMM (Association Belge contre les Maladies neuro-Musculaires), Minister's Office Alda GREOLI (Wallonia-Brussels Community) Publisher Copyright: {\textcopyright} 2019 Elsevier B.V.",
year = "2019",
month = may,
doi = "10.1016/j.nmd.2019.02.003",
language = "English",
volume = "29",
pages = "343--349",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Ltd",
number = "5",
}