Wearable Technology to Assess Gait Function in SMA and DMD

NCT04193085 | Completed

• 1 other identifier: AAAS5641
• Study Type: observational
• Target: 39
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this project is to devise instrumented insoles capable of accurately measuring gait at each footfall, over multiple hours in any environment. To achieve high accuracy, the investigators will develop a new learning-based calibration framework. Features will be tested in controlled lab settings 39 during a single visit in people with SMA (13), DMD (13) and healthy controls (13) and in 15 participants in real-life environments.

Conditions

Spinal Muscular Atrophy Type 3; Duchenne Muscular Dystrophy

Keywords

Spinal Muscular Atrophy; SMA; Duchenne Muscular Dystrophy; DMD; instrumented insole; neuromuscular disease; six minute walk test; machine learning model; gait analysis; wearable; ambulatory; stride; foot-worn

Outcome Measures

Primary Outcomes (6)

• Validation of Instrumented Insoles: Six Minute Walk Test

  To measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway participants will complete the Six Minute Walk Test. This test is an objective evaluation of functional exercise capacity, measures the maximum distance a person can walk in six minutes over a 25 meter course. This will be performed in a corridor and include the instrumented walkway.

  Baseline

• Validation of Instrumented Insoles: 10 Meter Walk/Run

  To measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway, participants will walk, or run if able to, for 10 meters on the instrumented walkway.

  Baseline

• Validation of Instrumented Insoles: Time Up and Go Test (TUG)

  To measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway, participants will complete the TUG test. This test is designed to test mobility after a person stands up from a seated position. This will be completed on the instrumented walkway.

  Baseline

• Validation of Instrumented Insoles: Straight Line Walking

  To measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway, participants will be asked to walk in a straight line multiple times over the instrumented walkway.

  Baseline

• Validation of Instrumented Insoles: Circle Walking

  To measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway participants will be asked to walk a series of half-circles on the instrumented walkway.

  Baseline

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

  HHD is used to assess strength of selected muscles.

  Baseline

Secondary Outcomes (1)

• Free-living Testing of Instrumented Insoles

  One week

Study Arms (3)

Spinal Muscular Atrophy (SMA)

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

Other: Observational

Duchenne / Becker Muscular Dystrophy (DMD/BMD)

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.

Other: Observational

Healthy Control

The healthy control group will be age and gender-matched to the SMA and DMD groups as best as possible

Other: Observational

Interventions

Observational OTHER

Observational

Duchenne / Becker Muscular Dystrophy (DMD/BMD); Healthy Control; Spinal Muscular Atrophy (SMA)

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 13 ambulatory SMA participants, 13 ambulatory DMD participants, and 13 healthy controls.

You may qualify if:

• One of the following categories:
• Genetic confirmation of spinal muscular atrophy
• Genetic confirmation of Duchenne or Becker muscular dystrophy or evidence on muscle biopsy with a clinical presentation consistent with DMD/BMD
• Healthy individuals.
• Able to walk independently at least 25 meters

You may not qualify if:

• Unable to walk 25 meters independently.
• Use of investigational medications intended for the treatment of SMA or DMD/BMD within 30 days prior to study entry.

Sponsors & Collaborators

• Columbia University: lead
• Muscular Dystrophy Association: collaborator
• Stevens Institute of Technology: collaborator

Study Sites (1)

Columbia University Medical Center

New York, New York, 10032, United States

Location

Related Publications (1)

• Montes J, Kanner CH, Duong T, Rodriguez-Torres R, Uher D, Young SD, Farooquee R, Druffner A, Pasternak A, Fragala-Pinkham M, Zanotto D. Wearable-Derived Patterns of Performance Fatigability During Gait in Spinal Muscular Atrophy. Muscle Nerve. 2025 Sep;72(3):493-501. doi: 10.1002/mus.28461. Epub 2025 Jun 25.

  PMID: 40557477 DERIVED

MeSH Terms

Conditions

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

Interventions

Watchful Waiting

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

Intervention Hierarchy (Ancestors)

Outcome Assessment, Health Care; Outcome and Process Assessment, Health Care; Quality of Health Care; Health Services Administration

Study Officials

• Jacqueline Montes, PT, EdD

  Columbia University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Rehabilitation and Regenerative Medicine , Rehab & Regenerative Med PT

Study Record Dates

• First Submitted: November 11, 2019
• First Posted: December 10, 2019
• Study Start: November 25, 2019
• Primary Completion: August 31, 2023
• Study Completion: August 31, 2023
• Last Updated: September 23, 2024

Record last verified: 2024-02

Locations

US (1)