Body Weight Support Harness System in Spinal Muscular Atrophy

NCT05715749 | Completed

• 1 other identifier: IRB18-00484
• Study Type: interventional
• Target: 33
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Spinal Muscular Atrophy Type I; Spinal Muscular Atrophy Type II

Keywords

exercise; physical therapy

Outcome Measures

Primary Outcomes (6)

• 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 Outcomes (1)

• Harness use log

  Completed throughout 6-month study period

Study Arms (1)

In-home body weight support harness system

EXPERIMENTAL

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

Interventions

In-home body weight support harness system OTHER

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.

Also known as: The Portable Mobility Aid for Children (PUMA)

In-home body weight support harness system

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• + 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

Sponsors & Collaborators

• Nationwide Children's Hospital: lead
• Novartis: collaborator

Study Sites (1)

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Related Publications (1)

• Iammarino MA, Alfano LN, Reash NF, Sabo B, Conroy S, Noritz G, Wendland M, Lowes LP. Feasibility and utility of in-home body weight support harness system use in young children treated for spinal muscular atrophy: A single-arm prospective cohort study. PLoS One. 2024 Mar 19;19(3):e0300244. doi: 10.1371/journal.pone.0300244. eCollection 2024.

  PMID: 38502672 DERIVED

MeSH Terms

Conditions

Spinal Muscular Atrophies of Childhood; Motor Activity

Interventions

bbc3 protein, zebrafish

Condition Hierarchy (Ancestors)

Muscular Atrophy, Spinal; Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Behavior

Study Officials

• Megan A Iammarino, DPT

  Nationwide Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Masking Details: Outcomes assessors are masked to previous participant performance.
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Research Physical Therapist

Study Record Dates

• First Submitted: January 20, 2023
• First Posted: February 8, 2023
• Study Start: September 7, 2018
• Primary Completion: June 15, 2020
• Study Completion: July 15, 2024
• Last Updated: July 22, 2024

Record last verified: 2024-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)