Spinal Muscular Atrophy
Conditions
Interventions
Group A:A theory-guided and home-based digital intervention on rehabilitation (RunD)
Guidance on rehabilitation
Group C:A theory-guided and home-based digital intervention on rehabilitation (RunD)
Group B:Routine care: Exercise promotion manual
Discharge guidance on rehabilitation
Group D:Routine care: Exercise promotion manual
Sponsors
Tsinghua University
Eligibility
Sex/Gender
All
Age
8 Years to No maximum
Inclusion criteria
Inclusion criteria: (a) Confirmed diagnosis of SMA by genetic testing, in reference to the standards outlined in Expert Consensus on Genetic Diagnosis of Spinal Muscular Atrophy (2020 Edition); (b) Classified as type 2 or 3 according to the international classification of SMA, with functional assessment indicating the ability to sit independently or walk independently, and aged 8 years or older; (c) Having received nusinersen monotherapy for more than 2 months and currently on maintenance dosage, with stable disease status; (d) Unable to attend physical exercise at hospitals or rehabilitation centers at least once a week in the past 6 months; (e) Able to receive regular nusinersen monotherapy throughout the study period; (f) The patient or caregiver is able to use the WeChat mobile application; (g) Able to provide informed consent.
Exclusion criteria
Exclusion criteria: (a) Having attended rehabilitation exercises at hospitals or rehabilitation centers once or more per week in the past 6 months; (b) Unable to receive regular nusinersen monotherapy during the study period; (c) Having undergone spinal surgery within the past 12 months; (d) Medical records or self-report indicating presence of mental illness, visual/hearing impairment; (e) Requiring daytime use of assistive ventilation devices (excluding during sleep); (f) Comorbid with other neuromuscular diseases or conditions affecting motor function, such as progressive muscular dystrophy, congenital myopathy, motor neuron disease, myasthenia gravis, and structural abnormalities of the central nervous system (e.g., syringomyelia, uncontrolled hydrocephalus); (g) Having severe comorbidities, such as chronic respiratory failure (dependent on invasive ventilation), severe dysphagia (dependent on gastrostomy and unable to cooperate with rehabilitation training), active malignant tumors (except for basal cell carcinoma of the skin with no recurrence after treatment), etc.; (h) Unable to participate in study data collection or intervention activities; (i) Having communication disorders; (j) Unable to provide informed consent; (k) Having participated or currently participating in any interventional study for the treatment of SMA (including investigational products or devices); (l) Any other reasons deemed by the researcher to hinder the subject from complying with study requirements or continuing participation in the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The mean change in the total score of the Hammersmith Functional Motor Scale Extended (HFMSE) compared to the baseline in patients; | — |
Secondary
| Measure | Time frame |
|---|---|
| The mean change in the Spinal Muscular Atrophy Functional Assessment Scale (SMAFRS) score from baseline;The mean change in the Health Status Questionnaire (SF-36) score from baseline;The mean change in the Revised upper limb module for SMA (RULM) score from baseline;The mean change in the 6-Minute Walk Test (6MWT) score from baseline;The mean change in compound muscle action potential amplitude (CMAP) from baseline;The mean change in pulmonary function from baseline;The mean change in mental health and social adaptation score measured using PROMIS-29 Profile from baseline;The mean change in caregiver burden inventor (CBI) score from baseline;Feasibility and Acceptability Questionnaire score;Compliance Scale of Functional Exercise score;Direct and indirect cost information; | — |
Countries
China
Contacts
Public ContactLUOSITONG
Tsinghua University
Outcome results
None listed