An English study on mortality in SMA in the era of innovative therapies

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The UK consortium dedicated to the care of young patients with SMA has carried out a retrospective mortality study using data from the national SMA REACH UK register:

  • over a 5-year period (2019-2023), 25 deaths were recorded among the 533 children listed in the said register,
  • one of them had a very severe form (SMA type 0), 20 had SMA type I and 4 had SMA type II,
  • the cause of death was almost always respiratory,
  • only 20 of the 25 children had received an innovative therapy (gene therapy, nusinersen or risdiplam),
  • the early onset of symptoms and the low number of copies of the SNM2 gene remain factors with a poor prognosis.

The authors argue in favour of early screening for SMA, ideally during the neonatal period, when symptoms are rarely present.

 

Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies. Finnegan R, Rohwer AM, Scoto M, et al. Neuromuscul Disord. 2025 Fev.

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