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Effect of nusinersen on respiratory function in patients with spinal muscular atrophy: an 18-month single-center
Tianjian Luo1,2, Lingling Xu1, Wen Tang1
1Department of Pediatrics, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Background:
Spinal muscular atrophy (SMA) is a severe neuromuscular disease characterized by respiratory muscle weakness, often leading to high mortality. Research on the effect of nusinersen on respiratory function in SMA patients remains scarce.
Objective:
To evaluate nusinersen's effect on respiratory function in SMA patients and provide a clinical basis for respiratory management.
Methods:
In this single-center prospective study, clinical data were collected from SMA patients in our pediatric department. Respiratory function, expressed as absolute values and percentages of predicted values (%pred), and active cough strength was evaluated at baseline and during follow-up after nusinersen treatment. Treatment effects were subsequently analyzed.
Results:
Among 59 SMA patients (39 Type II; 20 Type III), 40 completed baseline respiratory tests, of whom 67.5% had abnormal respiratory function. Type II patients had significantly lower VC %pred, FVC %pred, FEV1%pred, PEF %pred, FEF25%pred, and FEF50%pred than Type III patients (all P < 0.05). After 6 months, absolute value of FVC improved significantly in Type III (P < 0.05); by 18 months, absolute VC values in Type II patients, and absolute values and %pred of VC, FVC, FEF25, FEF50, and FEF75 in Type III increased significantly (all P < 0.05). Ineffective cough was observed in 76.3% of patients at baseline, and was more common in Type II patients (P = 0.001). Among patients who completed 18-month respiratory function follow-up (n = 23), the proportion with effective cough increased significantly from 39.1% (9/23) at baseline to 56.5% (13/23) after treatment (P < 0.05).
Conclusion:
Most SMA patients had impaired respiratory function, which was more severe in Type II than Type III patients. Nusinersen improved respiratory function and active cough strength, but could not fully reverse the progression of restrictive ventilatory dysfunction, especially in Type II.
