chinese regional spinal muscular atrophy patient registration study

Conditions: Recruitment

Summary: the primary objectives of this study are to obtain clinically meaningful data on the survival, outcomes, prognosis and treatment effect of all the patients with spinal muscular atrophy (sma) 5q types 1 to 3 (according to international classification), being followed in the children's hospital, zhejiang university school of medicine since october 2019. the registry will collect retrospectively and prospectively the longitudinal data of the long-term follow-up for children patients, under real life conditions of current medical practice, in order to document the clinical evolution of patients (survival, motor, respiratory, orthopedic and nutritional and so on), the conditions of use of the treatments, the mortality rates of treated and untreated patients, the tolerance of the treatments, adverse events.

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.

Eligibility criteria:
inclusion criteria: 1. genetically confirmed 5qsma patients through 1 to 3 types younger than 18 years old followed in our hospital since october 2019; 2. for prospective study: inform consent form signed by patient; 3. not combined with any other genetic and metabolic diseases; exclusion criteria: 1. other type of sma (not 5q). 2. under guardianship or curatorship. 3. unable to understand or cooperate with the study.

Keywords: spinal muscular atrophy long-term follow-up quality of life disease-modifying treatment clinical efficacy disease prognosis newborn screening