A Home-based Rehabilitation in ARSACS

Study Overview
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Brief Summary
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48 participants (24 women and 24 men) with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) will participate in 2 phases : control phase (12-week usual care) and intervention phase (12-week home-based rehabilitation program). The participants will be evaluated at baseline, week 12 (end of control phase) and week 24 (end of intervention phase) to quantify the effects of an individualized home-based rehabilitation program. Participants will also participate on a focus group at the end of the program to evaluate the acceptability of the program and the perceived changes.

Detailed Description
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Co-creation phase: Preceding the intervention, a co-creation phase involving healthcare professionals (3), patient-partners (2), and ARSACS researchers (3) will be conducted to develop the exercises for the rehabilitation program and the evaluation scale to determine the level of difficulty of each exercise assigned to participants. Intervention phase: Random sampling stratified by gender and level of indoor mobility (unassisted walking, assisted walking, wheelchair) from the Neuromuscular Clinic's registry of 48 participants (24 women and 24 men) will be conducted. Control phase: All participants will be asked to maintain their usual activities for 12 weeks. Intervention phase: All participants recruited to the project will complete the home-based rehabilitation program assigned to them for 12 weeks, unsupervised, 20 minutes 3 times a week. Follow-up calls by a physiotherapist will be conducted at weeks 2, 4, 6, 8, 10 and 12.

Official Title
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A Home-based Rehabilitation Program to Counter the Motor Impairments and Activity Limitations Experienced by People With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Conditions
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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Intervention / Treatment
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* Other: Rehabilitation


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: ARSACS diagnosis must be confirmed by genetic analysis; Women and men, aged between 18 and 50 years old; Be able to perform the sit-to-stand transfer; Consent of the neurologist must be given to participate in this study; Must reside in the Saguenay-Lac-St-Jean region; Subjects must be able to give their consent freely and voluntarily. Exclusion Criteria: Patients who already meet physical activity (PA) recommendations (150 min of moderate to high intensity PA/week) or already participate in a rehabilitation program are excluded; Remain in a care facility; Do not speak English or French; Have another diagnosis causing physical limitations; Are pregnant.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 50 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Supportive Care
Intervention Model: Sequential Assignment
Interventional Model Description: Participants will participate in 2 phases : control phase (12-week usual care) followed by an intervention phase (12-week home-based rehabilitation program).
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Control followed by intervention phase<br>All participants will participate in 2 phases : control phase (12-week usual care) followed by an intervention phase (12-week home-based rehabilitation program). The rehabilitation program consists of three domains of exercises divided by levels of difficulty: sitting balance (16 levels), standing balance (21 levels) and sit-to-stand transfer (12 levels), including 67 exercises. Each individualized home-based rehabilitation program will include 3 to 6 exercises, for a total duration of 15 to 20 minutes. | Other: Rehabilitation<br>* X<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in sitting balance | Measured with the Ottawa sitting scale, score range 0-40, a higher score indicates a better outcome | Baseline, week 12, week 24 | 
| Change in balance | Measured with the Berg Balance Scale, score range 0-56, a higher score indicates better balance | Baseline, week 12, week 24 | 
| Change in walking speed | Change in the walking speed, measured with the time to walk 10 meters at self-selected and maximum speed | Baseline, week 12, week 24 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in the balance confidence | Measured with the modified Activities-specific Balance Confidence (ABC) Scale, score range 0-100, 0 indicates no confidence and 100 is full confidence | Baseline, week 12, week 24 | 
| Change in the number of falls | Number of self-reported falls in the last month | Baseline, week 12, week 24 | 
| Change in the lower limb coordination | Number of touched targets in a 30 second period with each foot, measured with the Lower Extremity MOtor COordination Test (LEMOCOT) | Baseline, week 12, week 24 | 
| Change in the number of sit-to-stand performed in 30 seconds | Number of complete sit-to-stand performed in 30 seconds without the help of arms | Baseline, week 12, week 24 | 
| Change in the time required to ascent 10 stairs | Time required to ascent 10 stairs, measured with the 10 Stairs Ascent | Baseline, week 12, week 24 | 
| Change in the time required to descent 10 stairs | Time required to descent 10 stairs, measured with the 10 Stairs Descent | Baseline, week 12, week 24 | 
| Change in the life space | Measured with the Life Space Assessment (LSA), score range 0-120, a higher score indicates higher level of mobility in the next five areas: outside the bedroom, outside the house, in the neighborhood, outside of the neighborhood but in town, and outside town during the past four weeks | Baseline, week 12, week 24 | 
| Change in the upper limb coordination | Number of finger touched targets in a 20 second period of each side, measured with the Standardized Finger-Nose Test (SFNT) | Baseline, week 12, week 24 | 
| Change in social participation | The performance in activities of daily living, measured with the Assessment of Life Habits (LIFE-H), score range 0-9 | Baseline, week 12, week 24 | 
| Change in the Scale for the assessement and rating of ataxia (SARA) | Measured with the Scale for the assessment and rating of ataxia (SARA), score range 0-40, higher score indicates higher ataxia severity | Baseline, week 12, week 24 | 
| Measure of the usability of the program and hardware | Measured with the French System Usability Scale (F-SUS), original score range 0-40 converted to 0-100, a SUS score above a 68 would be considered above average and anything below 68 is below average | Week 24 | 
| Change in sleep components | The sleep components are measured with an actigraphy watch | Week 12, week 24 | 
| Change in mobility components | The changes in mobility components are measured with an actigraphy watch | Week 12, week 24 | 
| Change in the adductor hip muscle group spasticity | Change in the adductor hip muscle group spasticity, measured with the Modified Ashworth Scale | Baseline, week 12, week 24 | 
| Change in the knee extensor muscle group spasticity | Change in the knee extensor muscle group spasticity, measured with the Modified Ashworth Scale | Baseline, week 12, week 24 | 
| Change in the knee flexor muscle group spasticity | Change in the knee flexor muscle group spasticity, measured with the Modified Ashworth Scale | Baseline, week 12, week 24 | 
| Change in the plantar flexor muscle group spasticity | Change in the plantar flexor muscle group spasticity, measured with the Modified Ashworth Scale | Baseline, week 12, week 24 | 
| Sum of lower limb muscle spasticity | Sum of the spasticity results obtained for the adductor hip, knee extensor, knee flexor and plantar flexor muscle groups | Baseline, week 12, week 24 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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ARSACS