Clinical trial NCT05768750: A Home-based Rehabilitation in ARSACS
Official title: A Home-based Rehabilitation Program to Counter the Motor Impairments and Activity Limitations Experienced by People With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Keywords: ARSACS
Lead sponsor: Université de Sherbrooke
Sponsor class: OTHER
First posted: 2023-03-14
Enrollment: 48
Sex: ALL
Minimum age (years): 18
Maximum age (years): 50
Standard ages: ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SEQUENTIAL
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).
Primary purpose: SUPPORTIVE_CARE

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Change in sitting balance
timeFrame: Baseline, week 12, week 24
measure: Change in balance
timeFrame: Baseline, week 12, week 24
measure: Change in walking speed
timeFrame: Baseline, week 12, week 24
Secondary outcomes:
measure: Change in the balance confidence
timeFrame: Baseline, week 12, week 24
measure: Change in the number of falls
timeFrame: Baseline, week 12, week 24
measure: Change in the lower limb coordination
timeFrame: Baseline, week 12, week 24
measure: Change in the number of sit-to-stand performed in 30 seconds
timeFrame: Baseline, week 12, week 24
measure: Change in the time required to ascent 10 stairs
timeFrame: Baseline, week 12, week 24
measure: Change in the time required to descent 10 stairs
timeFrame: Baseline, week 12, week 24
measure: Change in the life space
timeFrame: Baseline, week 12, week 24
measure: Change in the upper limb coordination
timeFrame: Baseline, week 12, week 24
measure: Change in social participation
timeFrame: Baseline, week 12, week 24
measure: Change in the Scale for the assessement and rating of ataxia (SARA)
timeFrame: Baseline, week 12, week 24
measure: Measure of the usability of the program and hardware
timeFrame: Week 24
measure: Change in sleep components
timeFrame: Week 12, week 24
measure: Change in mobility components
timeFrame: Week 12, week 24
measure: Change in the adductor hip muscle group spasticity
timeFrame: Baseline, week 12, week 24
measure: Change in the knee extensor muscle group spasticity
timeFrame: Baseline, week 12, week 24
measure: Change in the knee flexor muscle group spasticity
timeFrame: Baseline, week 12, week 24
measure: Change in the plantar flexor muscle group spasticity
timeFrame: Baseline, week 12, week 24
measure: Sum of lower limb muscle spasticity
timeFrame: Baseline, week 12, week 24
Other outcomes:
Locations:
city: Saguenay
country: Canada
facility: Groupe de recherche interdisciplinaire sur les maladies neuromusculaires
state: Quebec
Study officials:
affiliation: Université du Québec à Chicoutimi
name: Elise Duchesne, Ph.D
role: PRINCIPAL_INVESTIGATOR
References: