Original scientific paper
https://doi.org/10.3325/cmj.2025.66.20
Spinal muscular atrophy type 3 and treatment adherence in a changing therapeutic landscape: a national-center experience
Mirea Hančević
; Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia
Barbara Sitaš
; Department of Neurosurgery, University Hospital Center Zagreb, Zagreb, Croatia
*
Hrvoje Bilić
; Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia
Jakob Nemir
; Department of Neurosurgery, University Hospital Center Zagreb, Zagreb, Croatia
Katarina Bilić
; Department of Surgery, University Hospital Center Zagreb, Zagreb, Croatia
Ervina Bilić
; Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia
* Corresponding author.
Abstract
Aim To report on treatment outcomes in adult patients
with spinal muscular atrophy type 3 (SMA3) who had their
nusinersen treatment initiated in adulthood.
Methods The study enrolled 11 adults treated with nusin
ersen for SMA3 at the Croatian National Referral Centre
for Neuromuscular Disorders from 2019 to 2022. We pro
spectively collected validated SMA outcome measures:
Revised Hammersmith score (RHS), Revised Upper Limb
Module, and 6-minute walk test (6MWT) as motor function
outcomes and the Individualized Neuromuscular Quality
of Life questionnaire. Baseline outcomes were compared
with the outcomes after three years of treatment.
Results All patients reported subjective improvement,
and 9/11 reported an increased quality of life. Overall,
10/11 patients experienced clinically significant improve
ment in at least one measured outcome, while the remain
ing 1 patient reported the absence of disease progression.
The mean increase in RHS was 2.7 points (P = 0.062), and
the mean increase in 6MWT was 39.7 m (P = 0.239). Young
er age and shorter disease duration correlated with better
treatment outcomes (r = -0.543 and r = -0.666, respectively).
After the approval of risdiplam in 2022, a third of patients
chose to switch therapies despite observed subjective and
objective positive nusinersen treatment effects.
Conclusion Nusinersen had a positive treatment effect
despite missed doses during the COVID-19 pandemic. Al
though the most significant improvements can be expect
ed in patients treated the earliest, nusinersen treatment
can be beneficial even in long-standing SMA.
Keywords
Hrčak ID:
352467
URI
Publication date:
20.2.2025.
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