Clinical trial NCT06839469: Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
Official title: Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Spinal Muscular Atrophy Type 3
Duchenne Muscular Dystrophy (DMD)
Keywords: SMA
spinal muscular atrophy
duchenne muscular dystrophy
DMD
instrumented insole
neuromuscular disease
machine learning model
gait analysis
functional biomarker
wearable
six minute walk test
ambulatory
becker phenotype
Lead sponsor: Columbia University
Sponsor class: OTHER
Collaborators: name: Stevens Institute of Technology
name: Stanford University
name: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
name: Boston Children's Hospital, Boston, MA, USA
First posted: 2025-02-21
Enrollment: 106
Sex: ALL
Minimum age (years): 5
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study sample will include 33 ambulatory SMA participants, 33 ambulatory DMD participants, and 40 healthy controls.

Brief summary: The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.

Detailed description: Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are genetic disorders that often result in progressive weakness and impaired function. Our recent findings suggest that novel machine-learning (ML)-based abstraction models may map noisy signals from foot-worn sensors (namely, instrumented insoles developed by the project team) into accurate and clinically relevant spatiotemporal and kinetic gait parameters. These gait parameters derived from instrumented insoles may serve as functional biomarkers to detect changes in real world function. All participants will be observed and measured while wearing the instrumented insoles in the lab and in real-life environments.

Eligibility criteria: Inclusion Criteria:

One of the following categories:

Genetic confirmation of disease (DMD, SMA) or healthy control Able to walk independently at least 25 meters

Cohort specific inclusion criteria include:

ongoing corticosteroids therapy or initiation of corticosteroid therapy in the previous 3 months for DMD stable dose of FDA approved SMN up-regulator therapy or in an open-label extension phase of a study treatment for at least 6 months for SMA or gene replacement at enrollment for SMA or DMD participants.

Exclusion Criteria

use foot orthoses or assistive devices for community ambulation or a mobility device for community navigation, use investigational medications intended for treatment of NMD within 30 days prior to study entry had an injury or surgery that would impact gait within the previous 3 months

Primary outcomes:
measure: Six Minute Walk Test
timeFrame: One day
measure: 10 Meter Walk/Run
timeFrame: One day
measure: Time Up and Go Test (TUG)
timeFrame: One day
measure: Muscle Strength Testing with Hand-held Dynamometry (HHD)
timeFrame: One day
measure: 30 Second Sit to Stand Test (30STS)
timeFrame: One day
measure: Ankle Range of Motion
timeFrame: One day
measure: Knee Extension Range of Motion
timeFrame: One day
measure: Hip Extension Range of Motion
timeFrame: One day
Secondary outcomes:
measure: Free-living Testing of Instrumented Insoles
timeFrame: One month
measure: Validation of Physical Activity using Actigraph accelerometer
timeFrame: One month
measure: International Physical Activity Questionnaire-Short Form, IPAQ-SF
timeFrame: One day
measure: PROMIS Pediatric Physical Activity Questionnaire
timeFrame: One day
Other outcomes:
Locations:
city: Palo Alto
country: United States
facility: Stanford University
state: California
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: New York
country: United States
facility: Columbia University Irving Medical Center
state: New York
Study officials:
References: