Spinal Muscular AtrophyNCT05638750
Outpatient Rehabilitation Intervention for Young Children With SMA
A study testing Rehabilitation Intervention in people with Spinal Muscular Atrophy, run by Holland Bloorview Kids Rehabilitation Hospital at 1 site in Canada.
Trial summary
An outpatient rehabilitation program for children (6 months to less than 6 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… Read more about this study
- Who is it for?
- Ages 6 months to 6 years
- Conditions the study is for
- Spinal Muscular Atrophy
- What is being tested?
- Rehabilitation Intervention
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteCanada
- Study dates
- 1 Jan 2022to Dec 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 6 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- SMA (Type I, II or III) diagnosis;
- Receives genetic based therapy;
- Aged 6 months to less than 6 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.
Who cannot join
- Live outside of Ontario;
- Tracheostomy or use of daytime ventilation (excluding ventilation used during naps).
Trial locations and contacts
1 site in 1 country.
Canada1 site, 1 recruiting
- Recruiting
Holland Bloorview Kids Rehabilitation Hospital
Toronto, Ontario, M4G 1R8
Laura McAdam, MD, 416-425-6220 ext. 6605, lmcadam@hollandbloorview.ca
Laura McAdam, MD
About this study
Official title: Twice Weekly Outpatient Rehabilitation Intervention for Young Children With Spinal Muscular Atrophy Treated With Genetic Based Therapies: A Feasibility Study
An outpatient rehabilitation program for children (6 months to less than 6 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).
Read the 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 less than 6 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).
- Conditions
- Spinal Muscular Atrophy
- Being tested
- Rehabilitation Intervention
- Keywords
- young children, pediatric, rehabilitation, feasibility study, pilot study
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Rehabilitation InterventionOther
12-week treatment intervention \& home exercised, then 12-week non-intervention period, follow-up visit at end of non-intervention period.
| Study group | Role | What they receive |
|---|---|---|
| Intervention | Experimental | Participants will participate in the rehabilitation intervention. Receives: Other: Rehabilitation Intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
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. This will be completed for participants ≤3 years old
Measured: Week 0, Week 12, Week 24
PedsQL
he PedsQL parent proxy-report scales measure health-related quality of life in children and adolescents 2-18 years old. PedsQL evaluates quality of life through functioning in physical, emotional, social, and school domains. The parent report for toddlers will be utilized for participants who are 4 years of age and the parent report for young children will be utilized for participants who are 5 years old.
Measured: 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). COPM will be completed for all participants.
Measured: 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. GAS will be completed for all participants.
Measured: 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). CHOP-INTEND will be used for participants who are not independent sitters regardless of age.
Measured: 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). HMFSE will be used for participants who are independent sitters regardless of age.
Measured: 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. The Bayley will be used with participants ≤3 years old
Measured: Week 0, Week 12, Week 24
Peabody Developmental Motor Scales (PDMS), 2nd Edition
The PDMS is an early childhood motor developmental assessment for gross and fine motor skills. The entire PDMS can take 60-90 minutes to complete. The PDMS will be used with participants >3 years old.
Measured: Week 0, Week 12, Week 24
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.
Measured: Week 12
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.
Measured: Weeks 1-24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Dec 2022
- Study start1 Jan 2022
- Primary completionDec 2024 (estimated)
- Study completionDec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Holland Bloorview Kids Rehabilitation Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Laura McAdam, Holland Bloorview Kids Rehabilitation Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05638750
- Sponsor's protocol ID
- 0550
- Status last verified
- Apr 2024
- First submitted
- 5 Nov 2022
- Last updated
- 9 Apr 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Ippolito C, Canthiya L, Floreani A, Luckhart K, Hoffman A, McAdam L. Twice-Weekly Outpatient Rehabilitation Intervention for Young Children With Spinal Muscular Atrophy Treated With Genetic-Based Therapies: Protocol for a Feasibility Study. JMIR Res Protoc. 2023 Nov 2;12:e46363. doi: 10.2196/46363.
PubMed 37917140
Study at a glance
From the registry record, last updated by the sponsor on 9 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Twice Weekly Outpatient Rehabilitation Intervention for Young Children With Spinal Muscular Atrophy Treated With Genetic Based Therapies: A Feasibility Study
- ClinicalTrials.gov ID
- NCT05638750
- Acronym / sponsor ID
- 0550
- Conditions
- Spinal Muscular Atrophy
- Keywords
- young children, pediatric, rehabilitation, feasibility study, pilot study
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Holland Bloorview Kids Rehabilitation HospitalUniversity, hospital or other
- Study start
- 1 Jan 2022 (actual)
- Primary completion
- Dec 2024 (estimated)
- Study completion
- Dec 2024 (estimated)
- First posted
- 6 Dec 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
An outpatient rehabilitation program for children (6 months to less than 6 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 less than 6 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).
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Intervention | Experimental | Other: Rehabilitation InterventionParticipants will participate in the rehabilitation intervention. |
Who may qualify
- Ages
- 6 months to 6 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (8 listed)
- SMA (Type I, II or III) diagnosis;
- Receives genetic based therapy;
- Aged 6 months to less than 6 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;
Key exclusion criteria (2 listed)
- Live outside of Ontario;
- Tracheostomy or use of daytime ventilation (excluding ventilation used during naps).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Rehabilitation Intervention12-week treatment intervention \& home exercised, then 12-week non-intervention period, follow-up visit at end of non-intervention period. | Other | Intervention |
Primary outcome
Infant Toddler Quality of Life Questionnaire (ITQOL)
Time frame: Week 0, Week 12, Week 24
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. This will be completed for participants ≤3 years old
PedsQL
Time frame: Week 0, Week 12, Week 24
he PedsQL parent proxy-report scales measure health-related quality of life in children and adolescents 2-18 years old. PedsQL evaluates quality of life through functioning in physical, emotional, social, and school domains. The parent report for toddlers will be utilized for participants who are 4 years of age and the parent report for young children will be utilized for participants who are 5 years old.
Canadian Occupational Performance Measure (COPM)
Time frame: Week 0, Week 12, Week 24
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). COPM will be completed for all participants.
Goal Attainment Scaling (GAS)
Time frame: Week 0, Week 12, Week 24
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. GAS will be completed for all participants.
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
Time frame: Week 0, Week 12, Week 24
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). CHOP-INTEND will be used for participants who are not independent sitters regardless of age.
Hammersmith Functional Motor Scale - Expanded (HFMSE)
Time frame: Week 0, Week 12, Week 24
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). HMFSE will be used for participants who are independent sitters regardless of age.
Bayley Scales of Infant and Toddler DevelopmentTM, 4th Edition
Time frame: Week 0, Week 12, Week 24
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. The Bayley will be used with participants ≤3 years old
Peabody Developmental Motor Scales (PDMS), 2nd Edition
Time frame: Week 0, Week 12, Week 24
The PDMS is an early childhood motor developmental assessment for gross and fine motor skills. The entire PDMS can take 60-90 minutes to complete. The PDMS will be used with participants >3 years old.
Acceptability of Intervention Measure (AIM), Intervention Appropriateness Measure (IAM), Feasibility of Intervention Measure (FIM)
Time frame: Week 12
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.
Home Exercise Diary
Time frame: Weeks 1-24
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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Apr 2024.
- Derived from this study: PubMed 37917140Ippolito C, Canthiya L, Floreani A, Luckhart K, Hoffman A, McAdam L. Twice-Weekly Outpatient Rehabilitation Intervention for Young Children With Spinal Muscular Atrophy Treated With Genetic-Based Therapies: Protocol for a Feasibility Study. JMIR Res Protoc. 2023 Nov 2;12:e46363. doi: 10.2196/46363.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Rehabilitation Intervention in people with Spinal Muscular Atrophy, run by Holland Bloorview Kids Rehabilitation Hospital at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 9 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Laura McAdam, MD (416-425-6220 ext. 6605, neuromuscular.research@hollandbloorview.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Infant Toddler Quality of Life Questionnaire (ITQOL) (time frame: Week 0, Week 12, Week 24). The study lists 10 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05638750, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Apr 2024.