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

Motor neuron disease; Population screening ; Malaltia de la neurona motora; Cribratge de població ; Enfermedad de la neurona motora; Cribado de población ; 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... Mehr ...

Verfasser: Boemer, François
Caberg, Jean‑Hubert
Beckers, Pablo
Dideberg, Vinciane
di Fiore, Samantha
Bours, Vincent
Blasco Perez, Laura
Tizzano Ferrari, Eduardo Fidel
Dokumenttyp: Artikel
Erscheinungsdatum: 2021
Verlag/Hrsg.: Nature Research
Schlagwörter: Atròfia muscular espinal - Tractament / Cribatge (Medicina) / Infants nadons / DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy / Spinal / Other subheadings::Other subheadings::/therapy / HEALTH CARE::Health Services Administration::Quality of Health Care::Outcome and Process Assessment (Health Care) / ANALYTICAL / DIAGNOSTIC AND THERAPEUTIC TECHNIQUES / AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Neonatal Screening / ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal / Otros calificadores::Otros calificadores::/terapia / ATENCIÓN DE SALUD::administración de los servicios de salud::calidad de la atención sanitaria::evaluación de resultados y procesos (atención a la salud) / TÉCNICAS Y EQUIPOS ANALÍTICOS / DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::cribado neonatal
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-28953146
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://hdl.handle.net/11351/7494

Motor neuron disease; Population screening ; Malaltia de la neurona motora; Cribratge de població ; Enfermedad de la neurona motora; Cribado de población ; 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. ; This pilot study is supported by AveXis, Biogen, Roche, the ABMM (Association Belge contre les Maladies neuro-Musculaires), Minister's Office Alda GREOLI (Wallonia-Brussels Community) and donations from individuals.