Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China.

Background: There is a large population of people with spinal muscular atrophy (SMA) in China, and new disease-modifying therapies have become available recently. However, comprehensive data on the management and profile of treatment-naive SMA patients in China are still lacking. Methods: As a retrospective study, a large cohort of treatment-naive patients with clinical and genetic diagnoses of 5q SMA were enrolled, ranging from neonatal to 18 years old, from the Neurology Department of Children's Hospital of Fudan University between January 2013 and December 2020. The data regarding their clinical presentations, genetic defects, motor function assessment results, and follow ups were reviewed. Results: We enrolled 392 SMA patients (male: female = 189: 203): 1a = 46, 1b = 44, 1c = 31, 2a = 119, 2b = 56, 3a = 52, 3b = 14, from 27 of the 34 administrative districts in China, and 389 patients harbored homozygous deletion of exon 7 in the SMN1 gene (99.2%). The median age of onset was 0.08 (range: 0-0.30), 0.25 (0.06-0.60), 0.42 (0.08-1.50), 0.67 (0.07-5.08), 1.0 (0.40-1.83), 1.5 (1.00-3.00), and 4.04 (1.80-12.00) years old for SMA 1a, 1b, 1c, 2a, 2b, 3a, and 3b patients, while the median age of first assessment was 0.25 (0.08-2.60), 0.42 (0.17-1.90), 0.80 (0.17-4.5), 2.50 (0.5-15.83), 2.92 (1.08-13.42), 4.25 (1.58-17.33), and 7.34 (3.67-14.00) years old, respectively. Patients were followed up with for up to 15.8 years. The median event-free survival time was 7 months, 15 months, and indeterminate in SMA 1a, 1b, and 1c patients ( Conclusion: Our study elucidated insight into the comprehensive management and profile of different types of SMA patients in China, providing a clinical basis for assessing the efficacy of new therapies.