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

NCT ID: NCT06839469

Last Updated: 2026-02-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

106 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-05-01

Study Completion Date

2028-04-01

Brief Summary

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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

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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.

Conditions

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Spinal Muscular Atrophy Type 3 Duchenne Muscular Dystrophy (DMD)

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Spinal Muscular Atrophy

Ambulatory children and adults at least 5 years old by the time of enrollment with genetically confirmed SMA.

No interventions assigned to this group

Duchenne Muscular Dystrophy

Ambulatory children and adults ages at least 5 years old by the time of enrollment with genetically confirmed Duchenne or Becker muscular dystrophy or evidence on muscle biopsy with a clinical presentation consistent with DMD/BMD.

No interventions assigned to this group

Healthy Control

The healthy control group will be ambulatory children and adults at least 5 years of age, age- and gender-matched to the SMA and DMD groups as best as possible.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

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

5 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Stevens Institute of Technology

OTHER

Sponsor Role collaborator

Stanford University

OTHER

Sponsor Role collaborator

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

NIH

Sponsor Role collaborator

Boston Children's Hospital, Boston, MA, USA

OTHER

Sponsor Role collaborator

Columbia University

OTHER

Sponsor Role lead

Responsible Party

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Jacqueline Montes

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Stanford University

Palo Alto, California, United States

Site Status RECRUITING

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Columbia University Irving Medical Center

New York, New York, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Jacqueline Montes, PT, EdD

Role: CONTACT

212-305-8916

Cara Kanner, DPT

Role: CONTACT

516-581-8150

Facility Contacts

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Sally Dunaway Young, PT, DPT

Role: primary

6504970075

Constance De Monts, PT, DPT

Role: backup

6502502292

Amy Pasternak, PT, DPT

Role: primary

6173557212

Maria Fragala Pinkham, PT, DPT, DSc

Role: backup

6173557212

Jacqueline Montes

Role: primary

2123058916

Cara Kanner, DPT

Role: backup

516-581-8150

Other Identifiers

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R01HD112908

Identifier Type: NIH

Identifier Source: secondary_id

View Link

AAAU9807

Identifier Type: -

Identifier Source: org_study_id

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