Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Conditions
Keywords
ARSACS
Brief summary
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
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.
Interventions
OTHERRehabilitation
X
Sponsors
Université de Sherbrooke
Study design
Allocation
NA
Intervention model
SEQUENTIAL
Primary purpose
SUPPORTIVE_CARE
Masking
NONE
Intervention 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).
Eligibility
Sex/Gender
ALL
Age
18 Years to 50 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in sitting balance | Baseline, week 12, week 24 | Measured with the Ottawa sitting scale, score range 0-40, a higher score indicates a better outcome |
| Change in balance | Baseline, week 12, week 24 | Measured with the Berg Balance Scale, score range 0-56, a higher score indicates better balance |
| Change in walking speed | Baseline, week 12, week 24 | Change in the walking speed, measured with the time to walk 10 meters at self-selected and maximum speed |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in the number of sit-to-stand performed in 30 seconds | Baseline, week 12, week 24 | Number of complete sit-to-stand performed in 30 seconds without the help of arms |
| Change in the time required to ascent 10 stairs | Baseline, week 12, week 24 | Time required to ascent 10 stairs, measured with the 10 Stairs Ascent |
| Change in the time required to descent 10 stairs | Baseline, week 12, week 24 | Time required to descent 10 stairs, measured with the 10 Stairs Descent |
| Change in the life space | Baseline, week 12, week 24 | 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 |
| Change in the upper limb coordination | Baseline, week 12, week 24 | Number of finger touched targets in a 20 second period of each side, measured with the Standardized Finger-Nose Test (SFNT) |
| Change in social participation | Baseline, week 12, week 24 | The performance in activities of daily living, measured with the Assessment of Life Habits (LIFE-H), score range 0-9 |
| Change in the Scale for the assessement and rating of ataxia (SARA) | Baseline, week 12, week 24 | Measured with the Scale for the assessment and rating of ataxia (SARA), score range 0-40, higher score indicates higher ataxia severity |
| Change in the balance confidence | Baseline, week 12, week 24 | Measured with the modified Activities-specific Balance Confidence (ABC) Scale, score range 0-100, 0 indicates no confidence and 100 is full confidence |
| Change in sleep components | Week 12, week 24 | The sleep components are measured with an actigraphy watch |
| Change in mobility components | Week 12, week 24 | The changes in mobility components are measured with an actigraphy watch |
| Change in the adductor hip muscle group spasticity | Baseline, week 12, week 24 | Change in the adductor hip muscle group spasticity, measured with the Modified Ashworth Scale |
| Change in the knee extensor muscle group spasticity | Baseline, week 12, week 24 | Change in the knee extensor muscle group spasticity, measured with the Modified Ashworth Scale |
| Change in the knee flexor muscle group spasticity | Baseline, week 12, week 24 | Change in the knee flexor muscle group spasticity, measured with the Modified Ashworth Scale |
| Change in the plantar flexor muscle group spasticity | Baseline, week 12, week 24 | Change in the plantar flexor muscle group spasticity, measured with the Modified Ashworth Scale |
| Sum of lower limb muscle spasticity | Baseline, week 12, week 24 | Sum of the spasticity results obtained for the adductor hip, knee extensor, knee flexor and plantar flexor muscle groups |
| Measure of the usability of the program and hardware | Week 24 | 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 |
| Change in the number of falls | Baseline, week 12, week 24 | Number of self-reported falls in the last month |
| Change in the lower limb coordination | Baseline, week 12, week 24 | Number of touched targets in a 30 second period with each foot, measured with the Lower Extremity MOtor COordination Test (LEMOCOT) |
Countries
Canada
Contacts
Primary ContactElise Duchesne, Ph.D
Outcome results
None listed