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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
Source: JAMA Paediatrics
Date Originally Published: 8 April 2024
Type of article: Clinical Trial Watch
MedED Catalogue Reference: MGCW007
Category: Paediatrics & Neonatology
Category Cross-reference: Neurology
Keywords: SMA, Spinal muscular atrophy, genetics
This summary is intended to provide a snapshot of the original research. It is in no way a substitute for the original research article, nor is it intended to be a complete reflection of the original research.
Originally published in JAMA Paediatrics, 8 April 2024
Early diagnosis and treatment are crucial for spinal muscular atrophy (SMA) outcomes.
This nonrandomized controlled trial compared infants diagnosed through newborn screening with those diagnosed after symptom onset. Data from 234 children with genetically confirmed SMA revealed that those screened at birth achieved motor milestones significantly earlier and had better functional outcomes compared to clinically diagnosed infants.
The newborn screening cohort started treatment at a mean age of 1.3 months, while the clinical symptom onset group began treatment at 10.7 months.
Access the Original Trial
Schwartz, O., Vill, K., Pfaffenlehner, M., Behrens, M., Weiß, C., Johannsen, J., Friese, J., Hahn, A., Ziegler, A., Illsinger, S., Smitka, M., von Moers, A., Kölbel, H., Schreiber, G., Kaiser, N., Wilichowski, E., Flotats-Bastardas, M., Husain, R. A., Baumann, M., Köhler, C., … SMARTCARE study group (2024). Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. JAMA pediatrics, e240492. Advance online publication. https://doi.org/10.1001/jamapediatrics.2024.0492
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