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Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before...

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Autores principales: Boemer, François, Caberg, Jean-Hubert, Beckers, Pablo, Dideberg, Vinciane, di Fiore, Samantha, Bours, Vincent, Marie, Sandrine, Dewulf, Joseph, Marcelis, Lionel, Deconinck, Nicolas, Daron, Aurore, Blasco-Perez, Laura, Tizzano, Eduardo, Hiligsmann, Mickaël, Lombet, Jacques, Pereira, Tatiana, Lopez-Granados, Lucia, Shalchian-Tehran, Sarvnaz, van Assche, Véronique, Willems, Arabelle, Huybrechts, Sofie, Mast, Bénédicte, van Olden, Rudolf, Dangouloff, Tamara, Servais, Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8497564/
https://www.ncbi.nlm.nih.gov/pubmed/34620959
http://dx.doi.org/10.1038/s41598-021-99496-2
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author Boemer, François
Caberg, Jean-Hubert
Beckers, Pablo
Dideberg, Vinciane
di Fiore, Samantha
Bours, Vincent
Marie, Sandrine
Dewulf, Joseph
Marcelis, Lionel
Deconinck, Nicolas
Daron, Aurore
Blasco-Perez, Laura
Tizzano, Eduardo
Hiligsmann, Mickaël
Lombet, Jacques
Pereira, Tatiana
Lopez-Granados, Lucia
Shalchian-Tehran, Sarvnaz
van Assche, Véronique
Willems, Arabelle
Huybrechts, Sofie
Mast, Bénédicte
van Olden, Rudolf
Dangouloff, Tamara
Servais, Laurent
author_facet Boemer, François
Caberg, Jean-Hubert
Beckers, Pablo
Dideberg, Vinciane
di Fiore, Samantha
Bours, Vincent
Marie, Sandrine
Dewulf, Joseph
Marcelis, Lionel
Deconinck, Nicolas
Daron, Aurore
Blasco-Perez, Laura
Tizzano, Eduardo
Hiligsmann, Mickaël
Lombet, Jacques
Pereira, Tatiana
Lopez-Granados, Lucia
Shalchian-Tehran, Sarvnaz
van Assche, Véronique
Willems, Arabelle
Huybrechts, Sofie
Mast, Bénédicte
van Olden, Rudolf
Dangouloff, Tamara
Servais, Laurent
author_sort Boemer, François
collection PubMed
description Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported.
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spelling pubmed-84975642021-10-12 Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium Boemer, François Caberg, Jean-Hubert Beckers, Pablo Dideberg, Vinciane di Fiore, Samantha Bours, Vincent Marie, Sandrine Dewulf, Joseph Marcelis, Lionel Deconinck, Nicolas Daron, Aurore Blasco-Perez, Laura Tizzano, Eduardo Hiligsmann, Mickaël Lombet, Jacques Pereira, Tatiana Lopez-Granados, Lucia Shalchian-Tehran, Sarvnaz van Assche, Véronique Willems, Arabelle Huybrechts, Sofie Mast, Bénédicte van Olden, Rudolf Dangouloff, Tamara Servais, Laurent Sci Rep Article Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported. Nature Publishing Group UK 2021-10-07 /pmc/articles/PMC8497564/ /pubmed/34620959 http://dx.doi.org/10.1038/s41598-021-99496-2 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Boemer, François
Caberg, Jean-Hubert
Beckers, Pablo
Dideberg, Vinciane
di Fiore, Samantha
Bours, Vincent
Marie, Sandrine
Dewulf, Joseph
Marcelis, Lionel
Deconinck, Nicolas
Daron, Aurore
Blasco-Perez, Laura
Tizzano, Eduardo
Hiligsmann, Mickaël
Lombet, Jacques
Pereira, Tatiana
Lopez-Granados, Lucia
Shalchian-Tehran, Sarvnaz
van Assche, Véronique
Willems, Arabelle
Huybrechts, Sofie
Mast, Bénédicte
van Olden, Rudolf
Dangouloff, Tamara
Servais, Laurent
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
title Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
title_full Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
title_fullStr Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
title_full_unstemmed Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
title_short Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
title_sort three years pilot of spinal muscular atrophy newborn screening turned into official program in southern belgium
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8497564/
https://www.ncbi.nlm.nih.gov/pubmed/34620959
http://dx.doi.org/10.1038/s41598-021-99496-2
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