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

NCT06839469 | Recruiting

• 2 other identifiers: AAAU9807R01HD112908
• Study Type: observational
• Target: 106
• Locations: 1 country
• Sites: 3

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.

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

Outcome Measures

Primary Outcomes (8)

• Six Minute Walk Test

  Participants will complete the six minute walk test in a corridor which includes the instrumented walkway, while wearing the insoles. This is to measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway. The six minute walk test is an objective evaluation of functional exercise capacity, and measures the maximum distance a person can walk in six minutes over a 25 meter course.

  One day

• 10 Meter Walk/Run

  Participants will walk, or run if able to, for 10 meters on the instrumented walkway while also wearing the insoles. This will be done to measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway. This outcome is reported as the time it takes for the participant to complete 10 meters as fast as possible.

  One day

• Time Up and Go Test (TUG)

  Participants will complete the TUG test. This is a timed test of mobility, requiring the participant to stand up from a seated position, walk 3 meters and return to sitting in the chair. The outcome reported is the time it takes for the participant to complete the sequence.

  One day

• Muscle Strength Testing with Hand-held Dynamometry (HHD)

  HHD is used to assess the strength of muscles and is reported as the maximum strength exerted in pounds (lbs).

  One day

• 30 Second Sit to Stand Test (30STS)

  30STS test is used to basic muscle power and function. The participant begins seated with their arms at their sides, feet flat on the floor and back against the chair. They are instructed to rise up to a full standing position and sit back down as many times as possible in 30 seconds, with or without using their hands for support.

  One day

• Ankle Range of Motion

  Ankle range of motion (ROM) will be assessed on both the left right side using standardized goniometers. The procedures used will be standardized and performed by trained physical therapists who have attended in-person training. ROM will be recorded in degrees for plantar flexion and dorsiflexion.

  One day

• Knee Extension Range of Motion

  Knee extension range of motion (ROM) will be assessed on both the left right side using standardized goniometers. The procedures used will be standardized and performed by trained physical therapists who have attended in-person training. ROM will be recorded in degrees of knee extension.

  One day

• Hip Extension Range of Motion

  Hip extension range of motion (ROM) will be assessed on both the left right side using standardized goniometers. The procedures used will be standardized and performed by trained physical therapists who have attended in-person training. ROM will be recorded in degrees of hip extension.

  One day

Secondary Outcomes (4)

• Free-living Testing of Instrumented Insoles

  One month

• Validation of Physical Activity using Actigraph accelerometer

  One month

• International Physical Activity Questionnaire-Short Form, IPAQ-SF

  One day

• PROMIS Pediatric Physical Activity Questionnaire

  One day

Study Arms (3)

Spinal Muscular Atrophy

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

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.

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.

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study sample will include 33 ambulatory SMA participants, 33 ambulatory DMD participants, and 40 healthy controls.

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Stevens Institute of Technology: collaborator
• Stanford University: collaborator
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator
• Boston Children's Hospital, Boston, MA, USA: collaborator
• Columbia University: lead

Study Sites (3)

Stanford University

Palo Alto, California, 94304, United States

RECRUITING

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Columbia University Irving Medical Center

New York, New York, 10032, United States

RECRUITING

MeSH Terms

Conditions

Spinal Muscular Atrophies of Childhood; Muscular Dystrophy, Duchenne; Muscular Atrophy, Spinal; Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Genetic Diseases, X-Linked

Central Study Contacts

Jacqueline Montes, PT, EdD

CONTACT

212-305-8916; jm598@cumc.columbia.edu

Cara Kanner, DPT

CONTACT

516-581-8150; chy2112@cumc.columbia.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: February 17, 2025
• First Posted: February 21, 2025
• Study Start: May 1, 2024
• Primary Completion (Estimated): December 30, 2027
• Study Completion (Estimated): April 1, 2028
• Last Updated: April 9, 2026

Record last verified: 2026-04

Locations

US (3)