search
Back to results

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

Primary Purpose

Spinal Muscular Atrophy

Status
Recruiting
Phase
Not Applicable
Locations
Canada
Study Type
Interventional
Intervention
Rehabilitation Intervention
Sponsored by
Holland Bloorview Kids Rehabilitation Hospital
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Spinal Muscular Atrophy focused on measuring young children, pediatric, rehabilitation, feasibility study, pilot study

Eligibility Criteria

6 Months - 3 Years (Child)All SexesDoes not accept healthy volunteers

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).

Sites / Locations

  • Holland Bloorview Kids Rehabilitation HospitalRecruiting

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Intervention

Arm Description

Participants will participate in the rehabilitation intervention.

Outcomes

Primary Outcome Measures

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.
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.
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).
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.
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).
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).
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.
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.

Secondary Outcome Measures

Full Information

First Posted
November 5, 2022
Last Updated
February 8, 2023
Sponsor
Holland Bloorview Kids Rehabilitation Hospital
search

1. Study Identification

Unique Protocol Identification Number
NCT05638750
Brief Title
Outpatient Rehabilitation Intervention for Young Children With Spinal Muscular Atrophy (SMA) Treated With Genetic Based Therapy
Official Title
Twice Weekly Outpatient Rehabilitation Intervention for Young Children With Spinal Muscular Atrophy Treated With Genetic Based Therapies: A Feasibility Study
Study Type
Interventional

2. Study Status

Record Verification Date
February 2023
Overall Recruitment Status
Recruiting
Study Start Date
January 1, 2022 (Actual)
Primary Completion Date
March 2024 (Anticipated)
Study Completion Date
March 2024 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Holland Bloorview Kids Rehabilitation Hospital

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes

5. Study Description

Brief Summary
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
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).

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Spinal Muscular Atrophy
Keywords
young children, pediatric, rehabilitation, feasibility study, pilot study

7. Study Design

Primary Purpose
Treatment
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
10 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Intervention
Arm Type
Experimental
Arm Description
Participants will participate in the rehabilitation intervention.
Intervention Type
Other
Intervention Name(s)
Rehabilitation Intervention
Intervention Description
12-week treatment intervention & home exercised, then 12-week non-intervention period, follow-up visit at end of non-intervention period.
Primary Outcome Measure Information:
Title
Acceptability of Intervention Measure (AIM), Intervention Appropriateness Measure (IAM), Feasibility of Intervention Measure (FIM)
Description
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.
Time Frame
Week 12
Title
Infant Toddler Quality of Life Questionnaire (ITQOL)
Description
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.
Time Frame
Week 0, Week 12, Week 24
Title
Canadian Occupational Performance Measure (COPM)
Description
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).
Time Frame
Week 0, Week 12, Week 24
Title
Goal Attainment Scaling (GAS)
Description
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.
Time Frame
Week 0, Week 12, Week 24
Title
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
Description
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).
Time Frame
Week 0, Week 12, Week 24
Title
Hammersmith Functional Motor Scale - Expanded (HFMSE)
Description
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).
Time Frame
Week 0, Week 12, Week 24
Title
Bayley Scales of Infant and Toddler DevelopmentTM, 4th Edition
Description
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.
Time Frame
Week 0, Week 12, Week 24
Title
Home Exercise Diary
Description
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.
Time Frame
Weeks 1-24
Other Pre-specified Outcome Measures:
Title
Demographics Survey
Description
This purposefully developed form will capture participant characteristics (e.g., age at intervention commencement (year, month), sex, parent report of genetic condition, genetic based therapies and timing)
Time Frame
Week 0

10. Eligibility

Sex
All
Minimum Age & Unit of Time
6 Months
Maximum Age & Unit of Time
3 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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).
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Laura McAdam, MD
Phone
416-425-6220
Ext
6605
Email
neuromuscular.research@hollandbloorview.ca
Facility Information:
Facility Name
Holland Bloorview Kids Rehabilitation Hospital
City
Toronto
State/Province
Ontario
ZIP/Postal Code
M4G 1R8
Country
Canada
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Laura McAdam, MD
Phone
416-425-6220
Ext
6605
Email
lmcadam@hollandbloorview.ca
First Name & Middle Initial & Last Name & Degree
Laura McAdam, MD

12. IPD Sharing Statement

Plan to Share IPD
No

Learn more about this trial

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

We'll reach out to this number within 24 hrs