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Patient-reported clinical characteristics and healthcare utilization in Spinal Muscular Atrophy (SMA): a
Bita Montazeri1, Rajabali Daroudi2, Ali Darvishi3,4
1Department of Pharmacoeconomics, Faculty of Pharmacy, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Background:
Spinal Muscular Atrophy (SMA) is a rare, inherited neuromuscular disorder characterized by progressive muscle wasting and imposing a significant clinical and economic burden on both patients and health care systems. Although global research on SMA is expanding, limited evidence is available from low- and middle-income countries, including Iran. This study aimed to provide a comprehensive profile of patients with SMA in Iran using self-reported data, with a focus on clinical characteristics, economic burden, and patterns of healthcare utilization.
Methods:
A cross-sectional study was conducted among 73 patients with SMA identified through the national SMA patient advocacy association. Data were collected via structured telephone interviews using a pre-tested questionnaire covering seven domains: sociodemographic characteristics, clinical profile, and health care utilization as prescribed by physicians, direct medical and non-medical costs. Descriptive analysis was performed using SPSS (v23).
Results:
Among the 73 participants (49.3% female), the majority had SMA Type 2 (63.0%) and were older than 10 years (97.3%). Hospitalization was reported by 52.1% of patients, with SMA-related admissions incurring significantly higher costs (average costs: $240.764) and longer stays. Regarding disease-modifying therapy, 56.2% received SMN-targeted treatments. Perceived efficacy assessments revealed that 72% and 81.25% of Nusinersen and Risdiplam -treated patients reported "good or significant" clinical improvement, respectively. Outpatient service use was variable: 49.3% had never received occupational therapy, and 74.0% had not engaged in physiotherapy. General practitioner (GP) visits were more common (68.5%), while consultations with pulmonologist and cardiologist visits were infrequent (24.7% and 27.4%, respectively). Only 19.2% reported having annual preventive check-ups.
Conclusion:
The findings underscore considerable heterogeneity in service utilization and economic burden among patients with SMA in Iran. the underuse of rehabilitation and specialist care may reflect access barriers or financial constraints. There is a critical need for national strategies to improve early diagnosis, ensure equitable access to therapies, and integration of SMA care into existing health insurance frameworks.
