Recruiting

Observational Study

Sponsor:

Columbia University

Code:

NCT06839469

Conditions

Spinal Muscular Atrophy Type 3

Duchenne Muscular Dystrophy (DMD)

Eligibility Criteria

Sex: All

Age: 5+

Healthy Volunteers: Accepted

Study Details

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)

Study ID

NCT06839469

Start date

May 1, 2024

Status verified date

Apr, 2026

Completion date

Apr 1, 2028

Anticipated

Primary completion date

Dec 30, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 5+

Healthy Volunteers: Accepted

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

Study Design

Enrollment

106 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • Six Minute Walk Test [ Time Frame: One day ]
  • 10 Meter Walk/Run [ Time Frame: One day ]
  • Time Up and Go Test (TUG) [ Time Frame: One day ]
  • Muscle Strength Testing with Hand-held Dynamometry (HHD) [ Time Frame: One day ]
  • 30 Second Sit to Stand Test (30STS) [ Time Frame: One day ]
  • Ankle Range of Motion [ Time Frame: One day ]
  • Knee Extension Range of Motion [ Time Frame: One day ]
  • Hip Extension Range of Motion [ Time Frame: One day ]

Central Contacts and Locations

Central contacts

Jacqueline Montes, PT, EdD

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

Cara Kanner, DPT

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

Locations

Stanford University

Recruiting

Palo Alto, California, United States, 94304

Contacts

Sally Dunaway Young, PT, DPT

650-497-0075sdy@stanford.edu

Constance De Monts, PT, DPT

6502502292cdemonts@stanford.edu

Principal Investigator:

John W Day, MD

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Amy Pasternak, PT, DPT

617-355-7212amy.pasternak@childrens.harvard.edu

Maria Fragala Pinkham, PT, DPT, DSc

6173557212maria.pinkham@childrens.harvard.edu

Principal Investigator:

Amy Pasternak, PT, DPT

Columbia University Irving Medical Center

Recruiting

New York, New York, United States, 10032

Contacts

Jacqueline Montes

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

Cara Kanner, DPT

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

More Information

Sponsor

Columbia University

Last update posted

Apr 9, 2026

Last verified

Apr, 2026

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-05. This information was provided to ClinicalTrials.gov by Columbia University on 2026-04-09.