Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders

Last updated: February 17, 2025
Sponsor: Columbia University
Overall Status: Active - Recruiting

Phase

N/A

Condition

Spinal Muscular Atrophy

Myasthenia Gravis (Chronic Weakness)

Muscular Dystrophy

Treatment

N/A

Clinical Study ID

NCT06839469
AAAU9807
R01HD112908
  • Ages > 5
  • All Genders
  • Accepts Healthy Volunteers

Study 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.

Eligibility Criteria

Inclusion

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

Study Design

Total Participants: 106
Study Start date:
May 01, 2024
Estimated Completion Date:
April 01, 2028

Study 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.

Connect with a study center

  • Stanford University

    Palo Alto, California 94304
    United States

    Active - Recruiting

  • Boston Children's Hospital

    Boston, Massachusetts 02115
    United States

    Active - Recruiting

  • Columbia University Irving Medical Center

    New York, New York 10032
    United States

    Active - Recruiting

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