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Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world
Chen-Hua Wang1,2,3, Ting-Rong Hsu4,5, Mei-Ying Liu6
1Department of Pediatrics, Kaohsiung Municipal Siaogang Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Insights
Early diagnosis of spinal muscular atrophy (SMA) through newborn screening (NBS) significantly improves patient outcomes. Infants receiving presymptomatic treatment showed better results than those treated after symptom onset.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Recent findings highlight improved outcomes for infants with spinal muscular atrophy (SMA) treated early via newborn screening (NBS).
- This study evaluated the long-term results of a 5-year SMA NBS program in Taiwan.
Purpose of the Study:
- To investigate the long-term outcomes of a 5-year SMA NBS program.
- To assess the impact of early diagnosis and treatment on SMA progression.
Main Methods:
- Screening for SMN1 homozygous deletion using RT-PCR or MassARRAY platform.
- Confirmation of deletions using multiplex ligation-dependent probe amplification (MLPA).
- Long-term follow-up of diagnosed infants, including those receiving disease-modifying therapy (DMT).
Main Results:
- Over 5 years, 23 infants were diagnosed with SMA via NBS out of 446,966 screened.
- Infants with 2 SMN2 copies showed rapid onset (within 62 days); those with 3 copies had onset within 1 year.
- Among 19 survivors receiving DMT, 12 became walkers, demonstrating positive treatment effects.
Conclusions:
- Early diagnosis through SMA NBS and prompt treatment significantly enhance clinical outcomes.
- Presymptomatic treatment in infants identified via NBS leads to better outcomes compared to symptomatic treatment.
- The study confirms that early intervention can alter the natural course of SMA in the therapeutic era.
Background:
Recent findings indicate that infants with spinal muscular atrophy (SMA) treated early through newborn screening (NBS) have better outcomes. This study aimed to investigate the long-term outcomes of a 5-year SMA NBS program in Taiwan.
Results:
From September 2017 to August 2022, two NBS centers screened patients for SMN1 homozygous deletion using quantitative real-time polymerase chain reaction (RT-PCR) or the Sequenom MassARRAY platform and subsequently confirmed the findings using multiplex ligation-dependent probe amplification (MLPA). Implementation of SMA NBS using RT-PCR or MassARRAY platform efficiently led to the detection of neonates with homozygous survival motor neuron 1 (SMN1) deletions at a median age of 9 (range 4-14) days. Among the 446,966 newborns screened, 22 were detected to have a homozygous deletion of SMN1, followed by MLPA confirmation. One patient initially showed negative screening results but was later confirmed to have a compound heterozygous mutation. Among the 23 confirmed cases, 8 patients had two SMN2 copies (all classified as SMA type 1), 11 patients had three SMN2 copies (including 4 with SMA type 1, 2 with SMA type 2, 3 with SMA type 3, and 2 asymptomatic cases), and 4 patients had four SMN2 copies (all asymptomatic). The mean (median) follow-up duration for 19 survivors was 4.2 (5.0) years. All patients with two SMN2 copies developed symptoms within 62 days; those with three SMN2 copies experienced disease onset within 1 year. After diagnosis, most patients were on a watch and wait to receive disease-modifying therapy (DMT) due to initial lack of insurance coverage and limitations on indications after coverage was granted. Of the 19 children who received DMT, the outcomes included 12 walkers, 1 walker requiring support, 3 sitters, 1 non-sitter, and 2 patients with SMA type 1b with two SMN2 copies who succumbed to acute respiratory failure.
Conclusions:
This 5-year SMA NBS study using RT-PCR or the MassARRAY platform, along with an extended follow-up, demonstrates that early diagnosis and prompt treatment can enhance SMA clinical outcomes and change its natural progression in the therapeutic era. Infants with NBS who received presymptomatic DMT had better clinical outcomes than those who received symptomatic DMT.
