April 24, 2025Orphanet Journal of Rare DiseasesOpen Access

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan

View Full Paper

Ask AI

Bookmark

Why the study?

Although early treatment via newborn screening improves outcomes in infants with spinal muscular atrophy, long-term outcomes of a 5-year screening program needed investigation.

Does newborn screening and early disease-modifying therapy improve clinical outcomes in infants with spinal muscular atrophy?

Population

446,966 newborns screened in Taiwan

Comparison

SMA newborn screening and subsequent disease-modifying therapy vs watch and wait

Design

Two-center 5-year newborn screening cohort study

Follow-up

Median 5.0 years

Authors

CWChen‐Hua WangKaohsiung Medical University THTing‐Rong HsuNational Yang Ming Chiao Tung University MLMei‐Ying LiuNational Yang Ming Chiao Tung University

Discussion

Member takes

Implication

May support SMA NBS programs; leaves open generalizability of long-term benefits.

Structured PICO

Does newborn screening and early disease-modifying therapy improve clinical outcomes in infants with spinal muscular atrophy?

Population

446,966 newborns screened in Taiwan, of which 23 were confirmed to have spinal muscular atrophy (SMA) with SMN1 deletions or mutations.

Intervention

Newborn screening for SMA using quantitative RT-PCR or Sequenom MassARRAY platform, followed by disease-modifying therapy (nusinersen, onasemnogene abeparvovec, or risdiplam) for confirmed cases.

Outcome

Long-term clinical outcomes including motor milestones and survival

Newborn screening for spinal muscular atrophy enables early diagnosis and presymptomatic treatment, which significantly improves motor outcomes and alters the natural disease progression.

Limitations

Infants with compound heterozygosity involving SMN1 point mutations cannot be identified using RT-PCR and Sequenom MassARRAY platforms.

Cite This Study

Wang et al. (2025) studied this question.

synapsesocial.com/papers/6a6f76923ce530166bc2a0a3 https://doi.org/10.1186/s13023-025-03697-1

View Full Paper

Ask AI

Bookmark

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

Also Consider

Also Consider