Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

the SMA NBS World Study Group

Research output: Contribution to journalArticlepeer-review

Abstract

Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have been implemented. The aim of the study was to obtain a global overview on the current situation and perspectives on SMA NBS. We conducted a survey and contacted experts from 152 countries, from which we gathered 87 responses. We identified 9 SMA NBS programs that have so far detected 288 newborns with SMA out of 3,674,277 newborns screened. Funding, screening methods, organisation, and consent process were variable between SMA NBS programs. Many respondents pointed the lack of cost/benefit data as a major obstacle to SMA NBS implementation. In the next four years, our data suggest a 24% coverage of newborns from countries where a disease-modifying drug is available and 8,5% coverage in countries with no diseases-modifying drugs. The annual proportion of newborns to be screened in the coming years is expected to increase steadily. The experts expressed a strong need for the implementation of SMA NBS as means to improve care for patients with SMA.

Original languageEnglish
Pages (from-to)574-582
Number of pages9
JournalNeuromuscular Disorders
Volume31
Issue number6
DOIs
StatePublished - Jun 2021

Funding

FundersFunder number
Roche
Biogen

    Keywords

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

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