Treatment of 5q-spinal muscular atrophy with nusinersen in Southern China: A single center retrospective study

Abstract Nusinersen is the first approved disease-modifing therapy for all 5q-spinal muscular atrophy patients regardless of age or disease severity. In 2019, nusinersen treatment was approved by China Food and Drug Administration. Here, we first present the results of nusinersen treatment in Southern China. We analyzed clinical and laboratory data from 45 5q-spinal muscular atrophy patients between December 2019 and May 2022. Nine patients with 5q-spinal muscular atrophy type 1, 22 patients with type 2 and 14 patients with type 3 were enrolled. Mean age receiving therapy was 51 months. The mutational analysis revealed 3 SMN2 gene copies in the majority of patients (80.0%). Two and 4 copies were found in 4.4% and 15.6%. Total 230 nusinersen injections were performed. 98% (44/45) patients improved or remained stabilized, and 2.0% (1/45) worsened on motor scales during the follow-up. Over 60% (27/44) patients had gained a responder rate (improvement ≥ 4 points) after 4 doses injection in functional test. Nusinersen was well tolerated. But there were still 44.4% patients suffering respiratory tract infection during therapy. In conclusion, our data indicates that nusinersen treatment is safety and effective in motor function recovery for many Chinese 5q-spinal muscular atrophy pediatric patients, but the improvement of respiratory function is not obvious, which needs further assessment.