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

Author

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, and Laurent Servais

Subjects
Medicine, Science
Abstract

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.

Published
2021
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2. Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

Author

Jacques Lombet, Joseph Dewulf, Arabelle Willems, Laura Blasco-Pérez, Mickaël Hiligsmann, Bénédicte Mast, Rudolf van Olden, Samantha di Fiore, Sofie Huybrechts, Lucia Lopez-Granados, Jean-Hubert Caberg, Tatiana Aparecida Pereira, Nicolas Deconinck, Tamara Dangouloff, Sarvnaz Shalchian-Tehran, Vincent Bours, Sandrine Marie, Véronique van Assche, Eduardo F. Tizzano, François Boemer, Vinciane Dideberg, Laurent Servais, Pablo Beckers, A. Daron, Lionel Marcelis, RS: CAPHRI - R2 - Creating Value-Based Health Care, Health Services Research, Institut Català de la Salut, [Boemer F, Beckers P, di Fiore S] Biochemical Genetics Laboratory, Human Genetics, CHU Sart Tilman, University of Liège, B35, 4000 Liège, Belgium. [Caberg JH, Dideberg V] Molecular Genetics Lab, Department of Human Genetics, CHU of Liège, University of Liège, Liège, Belgium. [Bours V] Department of Human Genetics, CHU of Liège, University of Liège, Liège, Belgium. [Blasco-Perez L, Tizzano E] Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, UCL - SSS/DDUV - Institut de Duve, and UCL - (SLuc) Service de biochimie médicale

Subjects
Pediatrics, medicine.medical_specialty, National Health Programs, Science, Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Neonatal Screening [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], SMN1, Article, Workflow, Muscular Atrophy, Spinal, Food and drug administration, Health Services Administration::Quality of Health Care::Outcome and Process Assessment (Health Care) [HEALTH CARE], Population screening, Neonatal Screening, Belgium, Phénomènes atmosphériques, Outcome Assessment, Health Care, medicine, Cribatge (Medicina), Humans, Pilot program, Infants nadons, Genetic Predisposition to Disease, Public Health Surveillance, Motor neuron disease, Referral and Consultation, Otros calificadores::/terapia [Otros calificadores], diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::cribado neonatal [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Newborn screening, Multidisciplinary, business.industry, Incidence, Infant, Newborn, Disease Management, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal [ENFERMEDADES], Spinal muscular atrophy, Atròfia muscular espinal - Tractament, Other subheadings::/therapy [Other subheadings], medicine.disease, SMA, Medicine, Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal [DISEASES], Disease Susceptibility, business, administración de los servicios de salud::calidad de la atención sanitaria::evaluación de resultados y procesos (atención a la salud) [ATENCIÓN DE SALUD]
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., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2021

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