ObjectiveTo explore the efficacy and safety of nusinersen sodium for the treatment of children with spinal muscular atrophy (SMA). MethodsThe clinical data of 19 SMA children were retrospectively analyzed. Children were confirmed as SMA after gene test and then received nusinersen sodium for treatment, and they were administrated on the day of the beginning of treatment, and on the 14th day, the 28th day, the 63rd day, the 180th day (6 months), the 300th day (10 months) after the beginning of treatment. Before the first medication and 10 months after treatment, the motor function scale was used to evaluate children′s motor function, and to detect their pulmonary function. The occurrence of adverse reactions after each medication was recorded in children. ResultsBefore treatment, 19 SMA children presented as impaired motor ability to different degrees, therein, 3 children could not sit by themselves (1 case in type Ⅰ and 2 cases in type Ⅱ), 11 children could sit by themselves but could not walk by themselves (9 cases in type Ⅱ and 2 cases in type Ⅲ), 5 children could walk by themselves (all cases in type Ⅲ), but their endurance was poor than children of the same age. Children did not achieve novel motor milestone after treatment, but no further decrease of motor ability. After 10 months of treatment, the evaluated value of total scale score of Children′s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) among 3 children who could not sit by themselves was all larger than 4; moreover, the Hammersmith Functional Motor Scale-Extended (HFMSE) total score of 18 SMA children in type Ⅱ to Ⅲ increased from 20.8 (9.0, 34.5) before treatment to 24.5 (13.0, 38.5) after treatment (P＜0.05), therein, the elevated value of HFMSE total score among 11 (61.1%) children was≥3. Among 5 SMA children in type Ⅲ who could walk by themselves, 3 of them finished 6-minute walk test (6MWT), and after 10 months of treatment, 6MWT walk distances were improved 5.6 m, 22.5 m, 25.6 m as compared with before treatment, respectively. After 10 months of treatment, among 4 children with pre-treatment restrictive ventilatory dysfunction, pulmonary ventilation function of 3 children was ameliorated to different degrees, including pulmonary ventilation function returned to normal in 2 children. After 10 months of treatment, the percentage of the measured value of inspiratory capacity to the predicted value, the percentage of the measured value of maximum vital capacity (VCmax) to the predicted value, the percentage of the measured value of peak expiratory flow to the predicted value, the percentage of the measured value of forced vital capacity (FVC) to the predicted value, the percentage of the measured value of forced expiratory volume in one second (FEV1) to the predicted value of 12 children who received pulmonary function detection were ameliorated as compared with before treatment (P＜0.05). There was no statistically significant difference in the percentage of the measured value of FEV1/FVC to the predicted value, the percentage of the measured value of FEV1/VCmax to the predicted value between before and after treatment (P＞0.05). On the first medication and after the second medication, there were 5 and 4 children presented as mild adverse reaction, respectively, and they were improved after symptomatic treatment such as fluid infusion and rest, etc. ConclusionThe application of nusinersen sodium to the treatment of SMA children can improve children′s motor ability to different degrees, prevent further regression of their motor function, ameliorate respiratory function, exerting relatively favorable efficacy and high safety.

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