A Home-based Rehabilitation in ARSACS (PACE-ARSCS)

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

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.

Study Overview

• Status: Recruiting
• Conditions: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
• Intervention / Treatment: Other: Rehabilitation

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.

• Study Type: Interventional
• Enrollment (Estimated): 48
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Elise Duchesne, Ph.D; Phone Number: 6148 418-545-5011; Email: elise1_duchesne@uqac.ca

Study Locations

• Canada
  • Quebec
    • Saguenay, Quebec, Canada, G7X 7X2
      • Recruiting
      • Groupe de recherche interdisciplinaire sur les maladies neuromusculaires
      • Contact: Elise Duchesne, Ph.D.; Phone Number: 6148 418-545-5011; Email: elise1_duchesne@uqac.ca
      • Principal Investigator: Elise Duchesne, Ph.D.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 50 years (Adult)
• Accepts Healthy Volunteers: No

Description

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.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Supportive Care
• Allocation: N/A
• Interventional Model: Sequential Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: Control followed by intervention phase; 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; X

What is the study measuring?

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
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
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

Collaborators and Investigators

• Sponsor: Université de Sherbrooke
• Collaborators: Ataxia Charlevoix-Saguenay Foundation
• Investigators: Principal Investigator: Elise Duchesne, Ph.D, Université du Québec à Chicoutimi

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2022
• Primary Completion (Estimated): December 1, 2024
• Study Completion (Estimated): December 1, 2024

Study Registration Dates

• First Submitted: March 3, 2023
• First Submitted That Met QC Criteria: March 3, 2023
• First Posted (Actual): March 14, 2023

Study Record Updates

• Last Update Posted (Actual): May 25, 2023
• Last Update Submitted That Met QC Criteria: May 23, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Keywords: ARSACS
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Dyskinesias; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Muscle Hypertonia; Cerebellar Diseases; Spinocerebellar Degenerations; Cerebellar Ataxia; Ataxia; Muscle Spasticity; Spinocerebellar Ataxias
• Other Study ID Numbers: 2021-047

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No