Newborn screening for SMA in Southern Belgium.

Belgium Early Diagnosis Early Medical Intervention Gene Deletion Homozygote Humans Infant, Newborn Neonatal Screening / ethics Oligonucleotides / therapeutic use Pilot Projects Spinal Muscular Atrophies of Childhood / diagnosis Stakeholder Participation Survival of Motor Neuron 1 Protein / genetics
Newborn screening SMN1 Spinal muscular atrophy Werdnig-Hoffmann disease qPCR

Journal

Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470

Informations de publication

Date de publication:
05 2019
Historique:
received: 24 05 2018
revised: 07 02 2019
accepted: 11 02 2019
pubmed: 30 4 2019
medline: 13 5 2020
entrez: 30 4 2019
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.nmd.2019.02.003 PMID: 31030938
pubmed: 31030938
pii: S0960-8966(18)30482-6
doi: 10.1016/j.nmd.2019.02.003
pii:
doi:

Substances chimiques

Oligonucleotides 0
SMN1 protein, human 0
Survival of Motor Neuron 1 Protein 0
nusinersen 5Z9SP3X666

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

343-349

Informations de copyright

Copyright © 2019 Elsevier B.V. All rights reserved.

Auteurs

François Boemer (F)

Biochemical Genetics Lab, Department of Human Genetics, CHU of Liege, University of Liege, Liege 4000, Belgium. Electronic address: f.boemer@chuliege.be.

Jean-Hubert Caberg (JH)

Molecular Genetics Lab, Department of Human Genetics, CHU of Liege, University of Liege, Liege, Belgium.

Vinciane Dideberg (V)

Molecular Genetics Lab, Department of Human Genetics, CHU of Liege, University of Liege, Liege, Belgium.

Domien Dardenne (D)

Molecular Genetics Lab, Department of Human Genetics, CHU of Liege, University of Liege, Liege, Belgium.

Vincent Bours (V)

Department of Human Genetics, CHU of Liege, University of Liege, Liege, Belgium.

Mickaël Hiligsmann (M)

Department of Health Services Research, CAPHRI Care and Public Health Research Institute, Maastricht University, Maastricht, The Netherlands.

Tamara Dangouloff (T)

I-Motion, Platform for Pediatric Clinical Trials, Arnold Trousseau Hospital, Paris, France; Neuromuscular Center, CHR Citadelle, University of Liege, Liege, Belgium.

Laurent Servais (L)

I-Motion, Platform for Pediatric Clinical Trials, Arnold Trousseau Hospital, Paris, France; Neuromuscular Center, CHR Citadelle, University of Liege, Liege, Belgium.

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Classifications MeSH

questionsmedicales.fr › Régions géographiques › Europe › Belgique › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Diagnostic › Diagnostic précoce › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Intervention médicale précoce › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Délétion de séquence › Délétion de gène › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Phénomènes génétiques › Génotype › Homozygote › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Pratiques en santé publique › Dépistage de masse › Dépistage néonatal › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Nucléotides › Polynucléotides › Oligonucléotides › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Projets pilotes › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Amyotrophies spinales infantiles › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Activités humaines › Participation des parties prenantes › Newborn screening for SMA in Southern Belgium.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéines du complexe SMN › Protéine-1 de survie du motoneurone › Newborn screening for SMA in Southern Belgium.