Outpatient Rehabilitation Intervention for Young Children With Spinal Muscular Atrophy (SMA) Treated With Genetic Based Therapy

Study Overview
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Brief Summary
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An outpatient rehabilitation program for children (6 months to 3 years old) with Spinal Muscular Atrophy (SMA) treated with genetic based therapies is being studied. Participants will participate in a 12-week therapy program where they receive 45 minutes each of occupational therapy and physical therapy each week. Home exercises will also be prescribed to be completed 5 days per week. At the end of the therapy program, there will be a 12-week period of no therapy where only home exercises will be completed. Assessments and program evaluation will occur at the beginning (Week 0) and end of the rehabilitation program (Week 24), then at the end of the no therapy block (week 24).

Detailed Description
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The standard of care for SMA has historically been physical therapy (PT) and occupational therapy (OT) often focused on strategies that reduce the risk of secondary side effects such as joint tightness. Recently, three genetic based therapies: nusinersen, onasemnogene abeparvovec and risdiplam, have been approved as treatment by Health Canada. Genetic based therapies have provided improvements in physical function for children with SMA. Currently, there is no evidence-based guidance regarding rehabilitation to increase function for children with SMA that have received genetic based therapies. Additionally, there is a lack of published evidence regarding the type of rehabilitation programs and the impact that rehabilitation has on physical function. An outpatient rehabilitation program for children (6 months to 3 years old) with Spinal Muscular Atrophy (SMA) treated with genetic based therapies is being proposed and its feasibility being evaluated. Participants will participate in a 12-week therapy program where they receive 45 minutes each of occupational therapy and physical therapy each week. Home exercises will also be prescribed to be completed 5 days per week. At the end of the therapy program, there will be a 12-week period of no therapy where only home exercises will be completed. Assessments and program evaluation will occur at the beginning (Week 0) and end of the rehabilitation program (Week 24), then at the end of the no therapy block (week 24).

Official Title
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Twice Weekly Outpatient Rehabilitation Intervention for Young Children With Spinal Muscular Atrophy Treated With Genetic Based Therapies: A Feasibility Study

Conditions
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Spinal Muscular Atrophy

Intervention / Treatment
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* Other: Rehabilitation Intervention


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: SMA (Type I, II or III) diagnosis; Receives genetic based therapy; Aged 6 months to 3 years old; Able to participate in weekly therapy at Holland Bloorview (i.e., can attend in-person sessions); Able to bring appropriate respiratory equipment to weekly therapy sessions, if required; Substitute decision makers (SDMs) must be able to speak and read English; Child participant must be able to understand/follow directions in English, as age appropriate; SDMs must consent to participate on behalf of their child. Exclusion Criteria: Live outside of Ontario; Tracheostomy or use of daytime ventilation (excluding ventilation used during naps).

Ages Eligible for Study
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Minimum Age: 6 Months
Maximum Age: 3 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: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Intervention<br>Participants will participate in the rehabilitation intervention. | Other: Rehabilitation Intervention<br>* 12-week treatment intervention & home exercised, then 12-week non-intervention period, follow-up visit at end of non-intervention period.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Acceptability of Intervention Measure (AIM), Intervention Appropriateness Measure (IAM), Feasibility of Intervention Measure (FIM) | An implementation outcome measure to evaluate the success of implementation efforts. The AIM, IAM and FIM are each 4-item surveys to evaluate the acceptability, appropriateness and feasibility of the intervention from a personal perspective using a 5-point Likert scale (1 = completely disagree to 5 = completely agree). Internal consistency (α) of the three measures ranged from 0.87 and 0.89, and they take less than five minutes to complete. | Week 12 | 
| Infant Toddler Quality of Life Questionnaire (ITQOL) | The ITQOL comprises 103 items on 12 scales pertaining to the past four weeks covering physical and psychosocial domains and impact of child health on parents. Scales include: physical functioning, growth and development, bodily pain, temperament/moods, general behaviour, getting along, general health perception, parental-emotional, parental-time, family activities, family cohesion, and change in health. | Week 0, Week 12, Week 24 | 
| Canadian Occupational Performance Measure (COPM) | The COPM measures an individual's self-perception of occupational performance on self-care, productivity and leisure. The COPM is used by OTs in initial assessments to set goals and plan treatment focusing on activities that an individual needs, wants or is expected to do. The importance of activities are rated on a 10-point scale (1 = not important at all to 10 = extremely important). The individual selects the five most important activities, which are rated on a 10-point performance scale (1 = not at all able to 10 = able to perform extremely well) and for satisfaction (1 = not at all satisfied to 10 = extremely satisfied). | Week 0, Week 12, Week 24 | 
| Goal Attainment Scaling (GAS) | Goal Attainment Scaling (GAS) is used to evaluate an individual's progress towards client/family goals. Each scale is developed based on assessment and collaboration between the therapist and the client/family. A 5-point scale, ranging from - 2 to +2, is used. A numeric value is assigned to each level of performance. On the original scale, 0 is used to represent the expected level of outcome, with +1 and +2 indicating greater than expected progress and -1 and -2 indicating less than expected progress (reference). Various protocols have been developed to improve the reliability and validity of GAS goals and they can be subjective in nature. | Week 0, Week 12, Week 24 | 
| Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) | The CHOP-INTEND evaluates the motor skills of patients with SMA Type I aged 3 months to over 4 years. The assessment includes 16 parts. Items are scored on a 4-point scale (0 = no response, 1 = partial level of response, 3 = nearly full level of response, 4= complete level of response). The assessment has good internal consistency (> 0.70) and strong intra-rater reliability (ICC=0.96). | Week 0, Week 12, Week 24 | 
| Hammersmith Functional Motor Scale - Expanded (HFMSE) | The 33-item HFMSE assesses the functional motor ability of individuals with SMA who are able to sit and walk using a 3-point scoring system (0 = unable to perform, 1 = performs with modification/adaptation/compensation, 2 = performs without modification/adaptation/compensation). | Week 0, Week 12, Week 24 | 
| Bayley Scales of Infant and Toddler DevelopmentTM, 4th Edition | The Bayley Scale is a developmental assessment tool for diagnosing developmental delays in early childhood (16 days to 42 months) across five domains: cognitive (81 items), language (79 items), motor (103 items), social-emotional (# items) and adaptive behaviour (# items). The entire Bayley Scale can take 30-70 minutes to administer depending on the participant's age. | Week 0, Week 12, Week 24 | 
| Home Exercise Diary | This purposefully developed form will be completed by the participant's parent/guardian each time the home exercise program is completed. The parent/guardian will be asked to fill out the week of the intervention, day of the week (e.g., Monday), which of the OT/PT exercises were completed (i.e., Yes, No, N/A), and any comments (i.e., about the participant's mood, adverse events, and duration of the exercises). Additionally, the parent/guardian will indicate if any additional activities were completed by the participant in the past week. | Weeks 1-24 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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young children, pediatric, rehabilitation, feasibility study, pilot study