This single-arm pilot study will assess the feasibility and 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 one 6-hour HABIT-ILE + FST session each weekend (Saturday or Sunday) for 15 weeks, for a total of 90 hours of training. Feasibility will be evaluated through questionnaires, and effectiveness through standardized motor function assessments.
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 controlled 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 aim of this pilot proposal is to evaluate the feasibility and preliminary efficacy of HABIT-ILE + FST in children with SMA receiving DMTs. Children with SMA will attend one 6-hour HABIT-ILE + FST session each weekend (either Saturday or Sunday) for 15 weeks, adding up to a total of 90 hours. 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.
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
Center for Cerebral Palsy Research, Teachers College, Columbia University
New York, New York, United States
RECRUITINGFeasibility questionnaire
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.
Time frame: Immediately after the intervention
Hammersmith Functional Motor Scale -Expanded (HFMSE)
Gross motor function measure; range: 0 to 66; higher scores indicate better motor function
Time frame: 4 assessments: Baseline 1, baseline 2 (1 week), post intervention (16 weeks), 3 months follow-up
Revised Upper Limb Module (RULM)
Upper limb function measure; range: 0 to 37; higher scores indicate better uper limb function
Time frame: 4 assessments: Baseline 1, baseline 2 (1 week), post intervention (16 weeks), 3 months follow-up
Endurance Shuttle box and blocks test (ESBBT)
Dexterity and upper extremity endurance/fatigability; range: O to 20 minutes (time to limitation); higher times correspond to better endurance
Time frame: 4 assessments: Baseline 1, baseline 2 (1 week), post intervention (16 weeks), 3 months follow-up
6-Minute Walk Test (6MWT)
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.
Time frame: 4 assessments: Baseline 1, baseline 2 (1 week), post intervention (16 weeks), 3 months follow-up
10 Meter Walking Test (10MWT)
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.
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Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
5
Time frame: 4 assessments: Baseline 1, baseline 2 (1 week), post intervention (16 weeks), 3 months follow-up
Timed Up and Go (TUG)
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
Time frame: 4 assessments: Baseline 1, baseline 2 (1 week), post intervention (16 weeks), 3 months follow-up
30-Second Sit-to-Stand Test (30STS)
Lower limb strength and endurance measure; range: 0 (unable to stand) to higher values reflecting better lower limb strength and endurance
Time frame: 4 assessments: Baseline 1, baseline 2 (1 week), post intervention (16 weeks), 3 months follow-up
Trunk Control Measurement Scale (TCMS)
Static and dynamic trunk control measure; range: 0 to 58 points; higher scores indicating better trunk control
Time frame: 4 assessments: Baseline 1, baseline 2 (1 week), post intervention (16 weeks), 3 months follow-up
Spinal Muscular Atrophy EFFORT (SMA EFFORT)
Questionnaire of perceived physical fatigability (ages 12 years and older); different subscales; higher scores indicating greater perceived fatigue
Time frame: 4 assessments: Baseline 1, baseline 2 (1 week), post intervention (16 weeks), 3 months follow-up
Canadian Occupational Performance Measure (COPM)
Interview of occupational performance and satisfaction; range: 1 to 10 for each item, with higher scores indicating better performance or greater satisfaction.
Time frame: 4 assessments: Baseline 1, baseline 2 (1 week), post intervention (16 weeks), 3 months follow-up
Daily activity logs
Implementation feasibility measure
Time frame: Every day during the intervention (assessed up to 15 weeks)