Body Weight Support Harness System in Spinal Muscular Atrophy

Exploring the Feasibility and Utility of In-home Body Weight Support Harness System Use in Children Treated for Spinal Muscular Atrophy: a Pilot Study

The goal of this pilot interventional study is to learn about the use of an in-home harness system in children who have been treated for spinal muscular atrophy. The main questions it aims to answer are:

1. Is the in-home body weight support harness system a feasible option for families to use?
2. Is the in-home body weight support harness system a useful tool for children treated for spinal muscular atrophy?
3. Is the in-home body weight support harness system a safe tool for children treated for spinal muscular atrophy?

Participants will be given an in-home body weight support harness system and taught how to use it. Families will document how often and for how long they use the system over 6 months. Children will be given tests of motor function at the beginning, 3-months, and 6-months. At the end of the study, families will be asked to fill out a questionnaire about thier experience using the system.

Study Overview

• Status: Completed
• Conditions: Spinal Muscular Atrophy Type II; Spinal Muscular Atrophy Type I
• Intervention / Treatment: Other: In-home body weight support harness system

• Study Type: Interventional
• Enrollment (Actual): 33
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Ohio
    • Columbus, Ohio, United States, 43205
      • Nationwide Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Confirmed heterozygous mutation in SMN1 gene and 2 or 3 copies of SMN2 (historically, SMA Type 1 and Type 2)
• Past or current treatment with nusinersen, onasemnogene abeparvovec, or risdiplam
• Upright head control (defined as the ability to lift head from full forward flexion)
• Weight under or 50lbs
• Confirmed motor delay

Exclusion Criteria:

• 4+ copies of SMN2 (historically, SMA Type 3 and 4)
• Evidence of lower limb injury or recent fracture
• In the opinion of the investigator, it was unsafe for the child to participate

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: In-home body weight support harness system; All participants will be entered into treatment arm and receive an in-home body weight support harness system	Other: In-home body weight support harness system; A portable, adjustable body weight support harness system that occupies roughly 9 feet x 9 feet space in the home. The system allows 360 degrees of mobility anywhere within the footprint of the frame. The amount of body weight support is adjustable.; Other Names: The Portable Mobility Aid for Children (PUMA)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Caregiver survey	A five question likert-style survey asking families to rate their experience during the study. The scales asks the family to rate (1) the perceived impact of BWSS on motor and (2) non-motor skills, (3) the child's perceived enjoyment using the system, (4) the ease of equipment use, and (5) if the family believed that use of the BWSS was beneficial on a 5-point Likert scale; scores of 4 or 5 were considered favorable, scores of 3 were considered neutral, and scores of 1 or 2 were considered unfavorable. Higher scores indicate greater perceived benefit of participation.	End of study visit (month 6)
Change in The Neuromuscular Gross Motor Outcome (GRO) scale	A 50-item performance-based outcome developed to quantify motor function across the span of age and abilities in individuals with neuromuscular disorders including spinal muscular atrophy (SMA). Scores range from 0 - 100 points; higher scores reflect a greater level of function. An increase in score indicates a better outcome.	Completed at baseline, 3 months, and 6 months
Change in Hammersmith Functional Motor Scale Expanded (HFMSE)	A disease-specific and performance-based outcomes originally developed to measure motor skill in untreated individuals with SMA. Scores range from 0 - 66 points; higher scores reflect a greater level of function. An increase in score indicates a better outcome.	Completed at baseline, 3 months, and 6 months
Change in Revised Hammersmith Scale (RHS)	A disease-specific and performance-based outcomes originally developed to measure motor skill in untreated individuals with SMA, revised following Rasch analysis of HFMSE. Scores range from 0 - 69 points; higher scores reflect a greater level of function. An increase in score indicates a better outcome.	Completed at baseline, 3 months, and 6 months
Change in Bayley Scales of Infant and Toddler Development 3rd ed. (Bayley-III), Gross motor subtest	A norm-referenced developmental assessment of gross motor skill in children 16 days - 3.5 years of age. Raw scores range from 0 - 72. Higher scores indicate a greater level of funcion. An increase in score indicates a better outcome.	Completed at baseline, 3 months, and 6 months
Change in World Health Organization Motor Milestone Checklist	A checklist of key gross motor milestones expected during typical development. Scores can range from 0 - 6 milestones achieved. Achievement of a greater number of milestones indicates better outcomes.	Completed at baseline, 3 months, and 6 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Harness use log	A log to document frequency (each use) and duration (how long it was used at one time) of harness system use.	Completed throughout 6-month study period

Collaborators and Investigators

• Sponsor: Nationwide Children's Hospital
• Collaborators: Novartis
• Investigators: Principal Investigator: Megan A Iammarino, DPT, Nationwide Children's Hospital

Study record dates

Study Major Dates

• Study Start (Actual): September 7, 2018
• Primary Completion (Actual): June 15, 2020
• Study Completion (Actual): July 15, 2024

Study Registration Dates

• First Submitted: January 20, 2023
• First Submitted That Met QC Criteria: January 27, 2023
• First Posted (Actual): February 8, 2023

Study Record Updates

• Last Update Posted (Actual): July 22, 2024
• Last Update Submitted That Met QC Criteria: July 18, 2024
• Last Verified: July 1, 2024

More Information

Terms related to this study

• Keywords: exercise; physical therapy
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Motor Neuron Disease; Body Weight; Muscular Atrophy; Atrophy; Muscular Atrophy, Spinal; Spinal Muscular Atrophies of Childhood
• Other Study ID Numbers: IRB18-00484

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Participant data will be provided in summary form at manuscript submission. Certain individual participant data will be available in manuscript as well.

Drug and device information, study documents

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