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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.
JAMA Pediatrics
|April 8, 2024
Summary
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.
