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Confirmation of the Clinical Effectiveness of Newborn Screening for SMA

The results of an important study by Oliver Schawrtz et al. were published on 8th April 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 GroupClinical 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 drugs1.3 months10.7 months
Gained the ability to sit independently40 (90.9%)141 (74.2%)
Gained the ability to walk independently28 (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.

You can find a link to the study results and editorial here.

Update on the SMA / ISE Partnership Board

The results of this study have been passed to all members of the SMA/ISE Partnership which is working on setting up an In-Service Evaluation of newborn screening for SMA in the UK. SMA UK and the UK SMA NBS Alliance are active members of the partnership. You can read the latest update about this work, here.

You can sign up to receive these updates directly, here.