Spinal Muscular Atrophy (SMA)
Conditions
Keywords
HABIT-ILE, Functional Strenght Training, Pediatric, Rehabilitation, Motor control, Intensive
Brief summary
This single-arm pilot study will assess the preliminary effectiveness of an intensive motor skill intervention (HABIT-ILE) combined with functional strength training (FST) in children with SMA who are receiving disease-modifying therapies. Participants will attend a HABIT-ILE + FST summer camp for 6 hours per day over a 3-week period, totaling 90 hours of training.
Detailed description
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder marked by the progressive degeneration of alpha motor neurons in the spinal cord and brainstem, resulting in proximal muscle atrophy and weakness. Based on age of onset and the motor function achieved, children were historically categorized into functional groups. However, recent advances leading to the development of disease-modifying therapies (DMTs) have transformed the management of SMA. Outcomes are now primarily determined by the timing of DMT initiation, with early treatment-ideally before symptom onset-showing significant efficacy in improving motor function and survival. Despite these therapeutic breakthroughs, rehabilitation remains a cornerstone of care for children with SMA. Current clinical guidelines emphasize physical activity, muscle strengthening, and stretching. However, few studies have rigorously evaluated these interventions, and even fewer have examined their combined effects with DMTs. This gap underscores the need for innovative, evidence-based rehabilitation strategies that can complement pharmacological treatments and further promote functional outcomes. Hand-Arm Bimanual Intensive Therapy Including Lower Extremities (HABIT-ILE) is an intervention that integrates bimanual coordination with postural control and gross motor training. Grounded in motor skill learning principles, HABIT-ILE delivers high-intensity, structured practice of progressively increased motor difficulty tasks and functional activities, emphasizing voluntary active movement. The approach has demonstrated efficacy in children aged 6 months to 18 years with cerebral palsy (CP), a non-progressive neurodevelopmental disorder caused by early brain injury. Although SMA and CP differ in pathophysiology, both conditions involve motor impairments that may respond to intensive, task-specific motor training. In individuals with SMA, central neuroplastic mechanisms may help compensate for peripheral motor deficits, while targeted motor training could optimize recruitment and efficiency of residual motor units in the muscle. Strength training, in particular, has demonstrated beneficial effects in individuals with SMA, suggesting that emphasizing skill training requiring increasing endurance and progressively increasing the weights of objects participants handled, may be especially advantageous. In this context, augmenting HABIT-ILE with a functional strength training (FST) component tailored to individual goals may further enhance motor outcomes in this population. The aims of this prospective single-group intervention trial are to determine the effects of HABIT-ILE+FST on motor function in children with SMA receiving DMTs, and to assess retention of gains at 6 months, and to evaluate the effects of HABIT-ILE+FST on muscle fatigability using both clinical assessments and surface electromyography (sEMG). Participants will complete 90 hours of HABIT-ILE + FST training over a 3-week period (6 hours/day). It is hypothesized that this intervention will be well tolerated by children, enhance the acquisition of new motor skills, and foster greater functional independence in daily activities.
Interventions
Goal-directed, task-specific training for both the upper and lower extremity, and postural control with targeted strengthening exercises to enhance motor control and facilitate the achievement of functional goals
Sponsors
Teachers College, Columbia University
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
Prospective single-group intervention trial
Eligibility
Sex/Gender
ALL
Age
5 Years to 17 Years
Healthy volunteers
No
Inclusion criteria
* Have a confirmed SMA diagnosis * Be 5-17 years old * Complete all pre- and post-intervention assessments * Understand and speak English * Follow instructions without major cognitive or behavioral issues * Have received a stable disease-modifying therapy (DMT) dose for ≥6 months * Be classified as a sitter or walker (SMA type 2 or 3) with supported standing ability (score ≥1 on Item 18 of the HFMSE) without KAFOs, AFOs, or external standing devices
Exclusion criteria
* Orthopedic surgery within the past year * New pharmaceutical treatment during the study * Concurrent participation in another clinical trial
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Hammersmith Functional Motor Scale - Expanded (HFMSE) | 3 assessments: Baseline, immediately after the intervention, 3 months follow-up | Gross motor function measure; range: 0 to 66; higher scores indicate better motor function |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Surface electromyography (sEMG) | 3 assessments: Baseline, immediately after the intervention, 3 months follow-up | Surface electromyography (sEMG) will be recorded from muscles of both lower extremities to assess rehabilitation-induced neuroplasticity and neuromuscular adaptations, including muscle fatigability and motor unit recruitment, during standardized endurance tasks. |
| Revised Upper Limb Module (RULM) | 3 assessments: Baseline, immediately after the intervention, 3 months follow-up | Upper limb function measure; range: 0 to 37; higher scores indicate better uper limb function |
| Endurance Shuttle box and blocks test (ESBBT) | 3 assessments: Baseline, immediately after the intervention, 3 months follow-up | Dexterity and upper extremity endurance/fatigability; range: O to 20 minutes (time to limitation); higher times correspond to better endurance |
| 6-Minute Walk Test (6MWT) | 3 assessments: Baseline, immediately after the intervention, 3 months follow-up | Walking endurance measure; range: 0 meters to the maximim distance the participant can walk in 6 minutes; higher distances reflect better ambulatory function and endurance. |
| 10 Meter Walking Test (10MWT) | 3 assessments: Baseline, immediately after the intervention, 3 months follow-up | Assesses gait speed by recording the time required to walk 10 meters, which is then expressed in meters per second. Scores range from 0 m/s (unable to walk) up to approximately 2 m/s in healthy individuals. Higher walking speed reflects better ambulatory function. |
| Timed Up and Go (TUG) | 3 assessments: Baseline, immediately after the intervention, 3 months follow-up | Functional mobility and dynamic balance measure. The TUG measures the time required to rise from a chair, walk 3 meters, turn around, return, and sit down. The outcome is expressed in seconds, with lower times reflecting better functional mobility and balance. |
| 30-Second Sit-to-Stand Test (30STS) | 3 assessments: Baseline, immediately after the intervention, 3 months follow-up | Lower limb strength and endurance measure; range: 0 (unable to stand) to higher values reflecting better lower limb strength and endurance |
| Trunk Control Measurement Scale (TCMS) | 3 assessments: Baseline, immediately after the intervention, 3 months follow-up | Static and dynamic trunk control measure; range: 0 to 58 points; higher scores indicating better trunk control |
| Spinal Muscular Atrophy EFFORT (SMA EFFORT) | 3 assessments: Baseline, immediately after the intervention, 3 months follow-up | Questionnaire of perceived physical fatigability (ages 12 years and older); different subscales; higher scores indicating greater perceived fatigue |
| Canadian Occupational Performance Measure (COPM) | 3 assessments: Baseline, immediately after the intervention, 3 months follow-up | Interview of occupational performance and satisfaction; range: 1 to 10 for each item, with higher scores indicating better performance or greater satisfaction. |
| Feasibility questionnaire | Immediately after the intervention | Feasibility questionnaire completed by both the child and their parents to assess the acceptability of the intervention (including child satisfaction and physical comfort, and parent feedback), as well as its demand and practicality. |
| Daily activity logs | Every day during the intervention (assessed up to 15 weeks) | Implementation feasibility measure |
Countries
United States
Contacts
CONTACTAndrew M Gordon, PhD
CONTACTAstrid Carton de Tournai, PhD
Outcome results
None listed