Treatment effect of Spinraza (Nusinersen) in adult patients with spinal muscular atrophy
Keywords:
spinal muscular atrophy, Nusinersen, motor scalesAbstract
Background: 5q spinal muscular atrophy (SMA) is a genetic neurodegenerative disease caused by a homozygous deletion or mutation in the survival motor neuron 1 (SMN1) gene, affecting the lower motor neurons. Nusinersen, an antisense oligonucleotide, was approved for the treatment of SMA after having been shown to improve survival and motor function in infants and children in two randomized placebo-controlled clinical trials as well as in adult patients in real-world studies.
Aim: The aim was to assess the safety and efficacy of nusinersen in Bulgarian adult 5q spinal muscular atrophy (SMA) patients.
Methods: Patients older than 18 years and followed for at least 4 months with several motor scales (Hammersmith Functional Motor Scale Expanded, HFMSE; Revised Upper Limb Module, RULM and 6 Minutes walking test) were included. The safety profile was assessed as well.
Results: Seventeen SMA patients, treated with nusinersen were included. Twelve patients showed a significant improvement of 2 points in RULM after 4 months, while eleven had improvement in HFMSE. On 6MWT 9 affected walked a longer distance, ranging between 14 and 98 m. The rest of the patients remained stabilized during the follow up period. No serious adverse events were reported in our cohort during the follow up period.
Conclusions: Nusinersen treatment is associated with either improvement or stabilization in adult SMA patients.
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