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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
Oliver Schwartz1, Katharina Vill2,3, Michelle Pfaffenlehner4,5
1Department of Pediatric Neurology, Münster University Hospital, Münster, Germany.
Insights
Newborn screening for spinal muscular atrophy (SMA) significantly improves treatment outcomes. Infants identified via screening achieved motor milestones like sitting and walking more frequently than those diagnosed after symptom onset.
Area of Science:
- Pediatric Neurology
- Genetics
- Public Health
Background:
- Early diagnosis and treatment are crucial for improving outcomes in infants with spinal muscular atrophy (SMA).
- Newborn screening programs aim to detect SMA before symptom onset, but controlled data on their benefits are limited.
Purpose of the Study:
- To compare outcomes in infants with SMA diagnosed through newborn screening versus those diagnosed after clinical symptom onset.
- To evaluate the effectiveness of newborn screening for SMA in a real-world setting.
Main Methods:
- A nonrandomized controlled trial utilizing data from the SMARTCARE registry (Germany, Austria, Switzerland).
- Inclusion of children with genetically confirmed SMA and up to 3 SMN2 copies, born between January 2018 and September 2021.
- Comparison of a newborn screening cohort with a clinical symptom onset cohort, with a minimum 18-month follow-up.
Main Results:
- The newborn screening cohort (n=44) showed significantly higher rates of achieving independent sitting (90.9%) and independent ambulation (63.6%) compared to the clinical symptom onset cohort (n=190).
- Mean age at treatment initiation was substantially lower in the screening group (1.3 months) versus the clinical group (10.7 months).
Conclusions:
- Newborn screening for SMA is effective in a real-world setting.
- Infants identified through screening demonstrate superior functional outcomes and treatment response compared to those diagnosed after symptom onset.
Importance:
There is increasing evidence that early diagnosis and treatment are key for outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs have been implemented to detect the disease before onset of symptoms. However, data from controlled studies that reliably confirm the benefits of newborn screening are lacking.
Objective:
To compare data obtained on patients with SMA diagnosed through newborn screening and those diagnosed after clinical symptom onset.
Design, Setting, And Participants:
This nonrandomized controlled trial used data from the SMARTCARE registry to evaluate all children born between January 2018 and September 2021 with genetically confirmed SMA and up to 3 SMN2 copies. The registry includes data from 70 participating centers in Germany, Austria, and Switzerland. Data analysis was performed in February 2023 so that all patients had a minimal follow-up of 18 months.
Exposure:
Patients born in 2 federal states in Germany underwent screening in a newborn screening pilot project. All other patients were diagnosed after clinical symptom onset. All patients received standard care within the same health care system.
Main Outcomes:
The primary end point was the achievement of motor milestones.
Results:
A total of 234 children (123 [52.6%] female) were identified who met inclusion criteria and were included in the analysis: 44 (18.8%) in the newborn screening cohort and 190 children (81.2%) in the clinical symptom onset cohort. The mean (SD) age at start of treatment with 1 of the approved disease-modifying drugs was 1.3 (2.2) months in the newborn screening cohort and 10.7 (9.1) months in the clinical symptom onset cohort. In the newborn screening cohort, 40 of 44 children (90.9%) gained the ability to sit independently vs 141 of 190 (74.2%) in the clinical symptom onset cohort. For independent ambulation, the ratio was 28 of 40 (63.6%) vs 28 of 190 (14.7%).
Conclusions And Relevance:
This nonrandomized controlled trial demonstrated effectiveness of newborn screening for infants with SMA in the real-world setting. Functional outcomes and thus the response to treatment were significantly better in the newborn screening cohort compared to the unscreened clinical symptom onset group.
Trial Registration:
German Clinical Trials Register: DRKS00012699.
