Newborn screening programs for spinal muscular atrophy worldwide in 2023

Eva Vrščaj, Tamara Dangouloff, Damjan Osredkar, Laurent Servais (Corresponding Author), the SMA NBS World Study Group, Madara Auzenbaha (Member of the Working Group)

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Abstract

Background
Spinal muscular atrophy is a rare, genetic neuromuscular disorder. Disease-modifying therapies, when administered early, have shown improved outcomes, leading to the implementation of numerous newborn screening programs for spinal muscular atrophy.
Objective
The aim of this study was to evaluate the progress in implementing newborn screening for spinal muscular atrophy and therapy accessibility worldwide, after the first paper published in 2021.
Methods
We conducted a survey, contacted experts from 143 countries worldwide, gathered responses from 86 experts from 80 countries.
Results
By 2023, 31 countries reported established programs, 33 in the beginning of the year 2024; identifying approximately 1176 cases of spinal muscular atrophy. Additionally, the availability of disease-modifying therapies has expanded. At least one therapy is now accessible in 62 countries. Challenges, such as lack of governmental support, resource constraints, and varying healthcare priorities continue to impede implementation in some countries.
Conclusions
The data shows a significant increase in the implementation of newborn screening programs since 2021. The experts are still expressing a strong need for equitable access to standard of care for all the patients globally. Despite all setbacks, collaborative efforts have played a crucial role in newborn screening for spinal muscular atrophy implementation and currently 7% of world newborns are being screened, projections indicate an estimated 18% screening rate by 2028.
Original languageEnglish
Pages (from-to)1180-1189
JournalJournal of Neuromuscular Diseases
Volume11
Issue number6
DOIs
Publication statusPublished - 2024
Externally publishedYes

Keywords*

  • Newborn screening
  • Spinal muscular atrophy
  • Pre-symptomatic
  • Nusinersen
  • Risdiplam
  • Onasemnogene abeparvovec

Field of Science*

  • 3.2 Clinical medicine

Publication Type*

  • 1.4. Reviewed scientific article published in Latvia or abroad in a scientific journal with an editorial board (including university editions)

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