Key result
Disease-modifying treatments in children with type I SMA resulted in 199 of 241 patients surviving at a mean follow-up of 3.48 years, with 65% of survivors achieving independent sitting.
Why the study?
Disease-modifying treatments have changed the natural history of 5q spinal muscular atrophy, prompting an evaluation of survival and functional outcomes in Italian type I children born since their availability.
Do disease-modifying treatments improve survival and functional outcomes in children with type I spinal muscular atrophy?
Population
241 infants with type I SMA born since January 1st, 2016
Comparison
Type I SMA born post-DMT approval vs born between January 1st, 2010, and December 31st, 2015
Design
Nationwide multicenter cohort study
Follow-up
Mean 3.48 years (SD 2.33)
Authors
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DMT era links to higher survival and sitting in type I SMA; confirms therapy impact yet leaves optimal regimens open for prospective study.
Cohort (n=241)
Yes
Do disease-modifying treatments improve survival and functional outcomes in children with type I spinal muscular atrophy?
Disease-modifying treatments significantly improve survival, motor, respiratory, and nutritional outcomes in children with type I spinal muscular atrophy, altering the natural history of the disease.
Pera et al. (2024) conducted a cohort in Type I spinal muscular atrophy (n=241). Disease-modifying treatments (DMT) vs. Historical cohort of SMA I patients born between 2010 and 2015 was evaluated on Survival. Disease-modifying treatments in children with type I SMA resulted in 199 of 241 patients surviving at a mean follow-up of 3.48 years, with 65% of survivors achieving independent sitting.
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