NCT05631418 - Chinese Regional Spinal Muscular Atrophy Patient Registration Study

The detailed objectives of this study included but not be limited to the following aspects: 1. to collect and describe overall demographic, familial, clinical, biological, and genetic characteristics of patients with 5qSMA diagnosed and treated in regions of China, by the type of SMA (type 1,2, and 3); 2. to study the impact of proactive and symptomatic medical interventions (such as bracing) and medications (disease-modifying treatment, anti-infectious, digestive, nutritional supplements, ect.) in the evolution of patients; 3. to study the long-term evolution (survival, motor and respiratory functions, spinal shape, growth and nutritional function) of 5qSMA in treated and untreated populations, by new available therapies; 4. to study the incidence and mortality rate of 5qSMA in treated and untreated populations; 5. to identify and document the different therapeutic strategies by sub-populations and by discontinuation or follow-up of treatments; 6. to evaluate prognostic factors of responses to different drug therapies; 7. to study the tolerance of treatments by type of treatments, by type of SMA and overall tolerance (including adverse events); 8. to help popularize newborn screening for SMA and pre-symptom treatment among Chinese population; 9. to get knowledge of the probable costs of care for 5qSMA patients in different groups (disease types, ages); 10. to provide needful elements to evaluate the health care costs for the disease; 11. to study the autonomy and the quality of life of patients depending on different therapies and the impact on patients' caregivers; 12. to help facilitate development of basic research on SMA in the conduct of trials on new treatment.