Newborn screening for SMA in Southern Belgium

François Boemer; Jean-Hubert Caberg; Vinciane Dideberg; Domien Dardenne; Vincent Bours; Mickaël Hiligsmann; Tamara Dangouloff; Laurent Servais

doi:10.1016/j.nmd.2019.02.003

Newborn screening for SMA in Southern Belgium

Neuromuscul Disord. 2019 May;29(5):343-349. doi: 10.1016/j.nmd.2019.02.003. Epub 2019 Feb 15.

Authors

François Boemer¹, Jean-Hubert Caberg², Vinciane Dideberg², Domien Dardenne², Vincent Bours³, Mickaël Hiligsmann⁴, Tamara Dangouloff⁵, Laurent Servais⁵

Affiliations

¹ Biochemical Genetics Lab, Department of Human Genetics, CHU of Liege, University of Liege, Liege 4000, Belgium. Electronic address: f.boemer@chuliege.be.
² Molecular Genetics Lab, Department of Human Genetics, CHU of Liege, University of Liege, Liege, Belgium.
³ Department of Human Genetics, CHU of Liege, University of Liege, Liege, Belgium.
⁴ Department of Health Services Research, CAPHRI Care and Public Health Research Institute, Maastricht University, Maastricht, The Netherlands.
⁵ I-Motion, Platform for Pediatric Clinical Trials, Arnold Trousseau Hospital, Paris, France; Neuromuscular Center, CHR Citadelle, University of Liege, Liege, Belgium.

PMID: 31030938
DOI: 10.1016/j.nmd.2019.02.003

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.

Keywords: Newborn screening; SMN1; Spinal muscular atrophy; Werdnig-Hoffmann disease; qPCR.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Belgium
Early Diagnosis
Early Medical Intervention
Gene Deletion
Homozygote
Humans
Infant, Newborn
Neonatal Screening / ethics
Neonatal Screening / legislation & jurisprudence
Neonatal Screening / organization & administration*
Oligonucleotides / therapeutic use
Pilot Projects
Spinal Muscular Atrophies of Childhood / diagnosis*
Spinal Muscular Atrophies of Childhood / drug therapy
Spinal Muscular Atrophies of Childhood / genetics
Stakeholder Participation
Survival of Motor Neuron 1 Protein / genetics

Substances

Oligonucleotides
SMN1 protein, human
Survival of Motor Neuron 1 Protein
nusinersen