Abstract / Summary
Abstract Background We used the Czech REaDY registry to collect and analyse data of paediatric patients with spinal muscular atrophy (SMA) who received nusinersen for five years. By sharing the results, we aim to increase healthcare professionals’ knowledge about this therapy. Results Our initial dataset of 153 patients younger than 19 years at the nusinersen therapy start (baseline) was reduced to 141 patients with available baseline data. We studied changes in patients’ condition and functioning at 6, 12, 24, 36, 48, and 60 months after therapy initiation. All except eight patients preserved feeding functions. Eight, not the same patients, patients experienced a worsening in ventilation status and newly in the final visit required non-invasive and one invasive ventilation. Results of functional motor scales improved showing statistically significant average changes in the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP) (0.21 per month, p < 0.001), the Hammersmith Functional Motor Scale (HFMSE) (0.13 per month, p < 0.001), and the Revised Upper Limb Module (RULM) (0.07 per month, p < 0.001) scores. The average improvement in the 6-minute walk test (6MWT) (0.39) was not statistically significant ( p = 0.292). Analysis of CHOP and HFMSE data in patients younger and older than six years showed better results in younger patients. Conclusions During the 5-year follow-up nusinersen therapy improved motor functions in paediatric patients. Despite treatment, we observed individual risk of worsening in ventilation and feeding status. There is a risk of losing motor functions, especially standing and walking as well. The risk of developing scoliosis was high, indicating the need of prevention. Improvement on therapy was well observed in functional motor scale within the first 6 months (CHOP and HFMSE), while RULM needed at least 12 months in an average. Side effects were related to the way of administration, not severe, and never lead to therapy discontinuation. We conclude that in the paediatric population, nusinersen therapy generally resulted in improvement of their condition.