Two studies clarify changes in respiratory function in children with SMA on nusinersen

SMA sma is the second most common neuromuscular disease in children. It is due to a genetically determined deficit in SMN protein and results in paralysis of the limbs and trunk of varying severity. There are four types depending on the age of onset and the the best motor function achieved (type 1 to 4). The recent arrival of innovative therapies aimed at increasing the intrinsic production of NMS has revolutionized the natural history of the disease, especially in the earliest forms.

Two articles published in October 2020 take stock of changes in respiratory parameters in children currently or recently treated with nusinersen (Spinraza®) intrathecally. In the first, French clinicians report the observation of sixteen children (including 2 with type 1c and 14 with type 2) whose ventilatory parameters were studied in the 14th month of treatment. The figures, compared with those of the natural history of the disease, show an indisputable, although modest, improvement with treatment. In the second, Israeli clinicians are more mixed in their assessment of the effectiveness of the treatment. In the 21 type 1 patients treated with nusinersen, they observed relative stability of respiratory parameters two years after initiation of treatment. One explanation could be that the children were treated relatively late (on average 13,5 months).

 

Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen. M Gómez-García de la Banda, A Amaddeo, S Khirani et al. Pediatr Pulmonol. 2020 (Oct).

 

Nusinersen for spinal muscular atrophy type 1: Real-world respiratory experience. M Lavie, N Diamant, M Cahal, E Sadot et al. Pediatr Pulmonol. 2020 (Oct).