Disease characteristics and treatment status of genetically confirmed spinal muscular atrophy patients: a cross-sectional survey in China.

BACKGROUND

This cross-sectional study aimed to investigate the disease status, motor function, and medication treatment choices of genetically confirmed SMA patients.

METHODS

A single-center, cross-sectional survey was conducted using web-based questionnaires and telephone interviews. Data were collected from genetically diagnosed SMA patients, including general information, SMA complications, motor function and medication treatment regimens.

RESULTS

Among the 106 patients finally included in analysis, the median age was 18.5 years (IQR, 14.00-25.75), with SMA types distributed as 10.4% type 1, 40.6% type 2, and 49.0% type 3. Despite the high prevalence of spinal deformities (84.0%) and joint deformities (82.1%), motor function was Generally well-maintained, with 51.9% of patients able to sit independently. The willingness of parents of patients who did not receive DMT treatment to have another child was lower than the willingness of parents of patients who had received DMT treatment (OR: 0.195; 95% CI: 0.068-0.562; P = 0.002). Notably, 66.0% had used nusinersen and 24.5% had used risdiplam. When selecting medications, the primary considerations among all patients included drug efficacy, safety, and cost. However, 48.8% of the patients who received treatment reported treatment dissatisfaction due to perceived poor efficacy and high costs. The efficacy outcomes most commonly recognized by patients included delaying disease progression, improving symptoms, and enhancing quality of Life. Additionally, 70.8% of SMA patients preferred solely oral medication therapy.

CONCLUSIONS

Patients with different subtypes of SMA are currently experiencing various complications while maintaining good motor function. In the future, there is a significant need for enhanced patient education about DMTs knowledge.