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

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

Abstract 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, administratio...

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Autores principales: François Boemer, Jean-Hubert Caberg, Pablo Beckers, Vinciane Dideberg, Samantha di Fiore, Vincent Bours, Sandrine Marie, Joseph Dewulf, Lionel Marcelis, Nicolas Deconinck, Aurore Daron, Laura Blasco-Perez, Eduardo Tizzano, Mickaël Hiligsmann, Jacques Lombet, Tatiana Pereira, Lucia Lopez-Granados, Sarvnaz Shalchian-Tehran, Véronique van Assche, Arabelle Willems, Sofie Huybrechts, Bénédicte Mast, Rudolf van Olden, Tamara Dangouloff, Laurent Servais
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
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Science
Q
Acceso en línea:https://doaj.org/article/aee7b58b35494c7a81456a3ae885e5c8
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Sumario:Abstract 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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