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Review
. 2024 Oct;82(10):1-9.
doi: 10.1055/s-0044-1791201. Epub 2024 Oct 13.

Why should a 5q spinal muscular atrophy neonatal screening program be started?

Michele Michelin Becker  1 , Flávia Nardes  2 , Tamara Dangouloff  3 , Laurent Servais  4 , Alexandra Prufer de Queiroz Campos Araujo  2 , Juliana Gurgel-Giannetti  5
Affiliations
Review

Why should a 5q spinal muscular atrophy neonatal screening program be started?

Michele Michelin Becker et al. Arq Neuropsiquiatr. 2024 Oct.

Abstract
in English, Portuguese

Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are started, the better the prognosis. Newborn screening for SMA, which is already performed in many countries, has been scheduled to begin in the near future. The development of a well-organized program is paramount to achieve favorable outcomes for the child who is born with the disease and for the costs involved in health care. We herein present a review paper hoping to point out that SMA neonatal screening is urgent and will not increase the cost of its care.

A atrofia muscular espinhal (AME) é uma doença genética neuromuscular progressiva tratável atualmente. Quanto antes o tratamento com as terapias modificadoras da doença for iniciado, melhor será o prognóstico. A triagem neonatal para a AME, já implementada em vários países, está programada para iniciar no Brasil em um futuro próximo. O desenvolvimento de um programa bem organizado é fundamental para que se alcance um resultado favorável para as crianças que nascem com a doença e para os custos envolvidos nos cuidados de saúde. Apresentamos um artigo de revisão na esperança de enfatizar que a triagem neonatal para a AME é urgente e não aumentará os custos relacionados aos cuidados.

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Conflict of interest statement

MMB: has received grants for clinical trials from Biogen; and honoraria for advisory board or lectures from: Genzyme-Sanofi, PTC Therapeutics, Roche, Sarepta, Pfizer, Novartis, and Biogen. FN: has received grants for clinical trials from PTC Therapeutics, and Roche; and honoraria for advisory board or lectures from: PTC Therapeutics, Roche, Novartis, and Biogen. TD: has given lectures sponsored by Biogen, Novartis, and Roche. LS: has received personal compensation from Biogen, Novartis, Roche, Scholar Rock, BioHaven, Illulina, and Zentech. APQCA: has received grants for clinical trials from GSK, PTC Therapeutics, Roche, and Sarepta; and honoraria for advisory board or lectures from: Genzyme-Sanofi, PTC Therapeutics, Roche, Sarepta, Pfizer, Novartis, and Biogen. And JGG: has received grants for clinical trials from Biogen; and honoraria for advisory board or lectures from: PTC Therapeutics, Roche, Sarepta, Pfizer, Novartis, Biogen, Genzyme-Sanofi, and Astellas.

Figures

Figure 1
Figure 1
Concept of phenoconversion for spinal muscular atrophy (SMA) patients identified by newborn screening (NBS).
Figure 2
Figure 2
Workflow for the NBS program for SMA (modified by Abiusi et al., 2023).
See this image and copyright information in PMC

References

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    1. Deutsche Gesellschaft für Neugeborenscreening e. V. (DGNS).Nationaler Screening Report Deutschland 2019. Accessed on 13 April 2023. Available at:https://www.screening-dgns.de/Pdf/Screeningreports/DGNS-Screeningreport-...(2)
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