期刊
NEUROMUSCULAR DISORDERS
卷 29, 期 5, 页码 343-349出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2019.02.003
关键词
Spinal muscular atrophy; Werdnig-Hoffmann disease; Newborn screening; SMN1; qPCR
资金
- Biogen
- AveXis
- ABMM (Association Belge contre les Maladies neuro-Musculaires), Minister's Office Alda GREOLI (Wallonia-Brussels Community)
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.
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