[Clinical effectiveness and safety of newborn screening for spinal muscular atrophy. Systematic review]

Llanos Méndez A, Romero Tabares A
Record ID 32018012115
Original Title: Efectividad clínica y seguridad del cribado neonatal de la atrofia muscular espinal
Authors' objectives: To assess the safety and clinical effectiveness of the SMA neonatal screening program.
Authors' results and conclusions: Results: Nine studies describing screening experiences conducted in various countries were included. The data on screening programs were based on descriptive studies without a control group, with a small number of diagnosed cases. However, these studies showed that children with 2-3 copies of the SMN2 gene who were screened and treated before the onset of symptoms remained asymptomatic during follow-up. Deaths occurred in untreated children with 2 copies of SMN2. Conclusion: The localized evidence suggests a decrease in mortality and improvements in clinical outcomes among children with 2 copies of the SMN2 gene who were screened and treated with disease-modifying drugs (low level of evidence)
Authors' methods: A systematic literature review was conducted in the following reference databases up to June 2022: Medline, EMBASE, Web of Science, Cochrane Library. Additionally, searches were performed in the Centre for Reviews and Dissemination (CRD) database, the National Institute for Health and Care Excellence (NICE), the platform of the Spanish Network of Health Technology Assessment Agencies and Health Services Provision (RedETS), European Medicines Agency (EMA), Spanish Agency of Medicines and Medical Devices (AEMPS), Canadian Agency for Drugs and Technologies (CADTH), as well as a secondary review based on the 22 INFORMES, ESTUDIOS E INVESTIGACIÓN bibliographic references of the retrieved articles. Selection, data extraction, and assessment of the risk of bias of the included studies were performed. The information was synthesized qualitatively.
Project Status: Completed
Year Published: 2023
Requestor: Ministry of Health
English language abstract: An English language summary is available
Publication Type: Full HTA
Country: Spain
MeSH Terms
  • Spinal Muscular Atrophies of Childhood
  • Muscular Atrophy, Spinal
  • Neonatal Screening
  • Mass Screening
  • Infant, Newborn
Organisation Name: Andalusian Health Technology Assessment Area
Contact Address: Area de Evaluacion de Tecnologias Sanitarias Sanitarias de Andalucia (AETSA) Avda. Innovación, s/n Edificio Arena 1. Sevilla (Spain) Tel. +34 955 006 309
Contact Name: aetsa.csalud@juntadeandalucia.es
Contact Email: aetsa.csalud@juntadeandalucia.es
Copyright: <p>Andalusian Agency for Health Technology Assessment (AETSA)</p>
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.