Real-world evidence of Nusinersen treatment for patients with spinal muscular atrophy in the Kingdom of Saudi Arabia: Initial insights from the Saudi national spinal muscular atrophy program.

objectivesTo assess the clinical and functional outcomes of 110 patients with spinal muscular atrophy (SMA) program who received nusinersen treatment in the Kingdom of Saudi Arabia (KSA).

methodsMotor assessments were performed using the Children's Hospital of Philadelphia infant test of neuromuscular disorder (CHOP-INTEND) and Hammersmith infant neurological examination (HINE) for type 1 SMA, the Hammersmith Functional Motor Scale-Expanded (HFMSE) for types 2 and 3 SMA; the 6-minute walk test (6MWT) for ambulant type 3 SMA, and the revised upper limb module (RULM) for types 2 and 3 SMA.

resultsData included all SMA types (type 1, 2.72%; type 2, 27.27%; type 3, 69.09%). The median (IQR) ages at diagnosis, therapy initiation, and symptoms onset were 9.07 (3.67-17.28), 12.04 (5.39-20.29), and 2.25 (0.75-4.00) years, respectively. The median (IQR) HFMSE score was 34 (12.00-46.00) at baseline (n=58 patients) and 29.00 (14.50-50.50) at month 20 (n=33 patients). Clinically meaningful improvement was observed in 23 patients, including 12 with an improvement >4 points.

conclusionThe study demonstrates that baseline and follow-up data from multiple motor and functional assessment scales were essential for evaluating disease progression and treatment response in SMA.