New Study Confirms Clinical Effectiveness of Newborn Screening for SMA
New Study Confirms Clinical Effectiveness of Newborn Screening for SMA
8th April 2024
The results of an important study by Oliver Schawrtz et al. were published today in JAMA Pediatrics along with an Editorial co-authored by Professor Laurent Servais.
About the Study
The study set out to compare data about children diagnosed through newborn screening (NBS) with data about children diagnosed after symptom onset.
The data was collected by the SMARTCARE registry from 70 participating centres in Germany, Austria and Switzerland. The children were born between January 2018 and September 2021. They all had genetically confirmed SMA and up to 3 SMN2 copies.
The data was analysed in February 2023. This meant that all children had a minimum follow up of 18 months.
Children in two areas in Germany were screened via a newborn screening pilot project. All the other children were diagnosed after clinical symptom onset. All children received standard care within the same health care system.
The Main Results
| Newborn Screening Group | Clinical Symptom Onset Group | |
|---|---|---|
| Number of children | 44 (18.8%) | 190 (81.2%) |
| Mean age at start of treatment with one of the approved disease-modifying drugs | 1.3 months | 10.7 months |
| Gained the ability to sit independently | 40 (90.9%) | 141 (74.2%) |
| Gained the ability to walk independently | 28 (63.6%) | 28 (14.7%) |
The German NBS pilot was one of the largest there has been. It screened 297,163 children within the first two years and identified 43 children with SMA. NBS for SMA became nationwide in 2021.
More on the study results and editorial >