Spinal Muscular Atrophy Type 3NCT06839469
Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
An observational study of Spinal Muscular Atrophy Type 3 and Duchenne Muscular Dystrophy (DMD), run by Columbia University at 3 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 5 years and olderHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy (DMD)
- How many people
- 106 participants
- Where
- 3 sitesUnited States
- Study dates
- 1 May 2024to 1 Apr 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: The study sample will include 33 ambulatory SMA participants, 33 ambulatory DMD participants, and 40 healthy controls.
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States3 sites, 3 recruiting
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
Amy Pasternak, PT, DPT, 617-355-7212, amy.pasternak@childrens.harvard.edu
Maria Fragala Pinkham, PT, DPT, DSc, 6173557212, maria.pinkham@childrens.harvard.edu
- Recruiting
Columbia University Irving Medical Center
New York, New York, 10032
Jacqueline Montes, 212-305-8916, jm598@cumc.columbia.edu
Cara Kanner, DPT, 516-581-8150, chy2112@cumc.columbia.edu
- Recruiting
Stanford University
Palo Alto, California, 94304
Sally Dunaway Young, PT, DPT, 650-497-0075, sdy@stanford.edu
Constance De Monts, PT, DPT, 6502502292, cdemonts@stanford.edu
About this study
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.
Read the detailed 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.
- 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
- Medical subject headings
- Spinal Muscular Atrophies of Childhood, Muscular Dystrophy, Duchenne, Muscular Atrophy, Spinal, Neuromuscular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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).
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: One day
Secondary outcomes (4)
Free-living Testing of Instrumented Insoles
To determine spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity using instrumented insoles, participants with SMA, DMD, and healthy controls will be asked to wear the insoles along with a validated activity tracker. Participants will be asked to wear the insoles during a single day visit to the lab, and then for at least 180 hours at home in a real-life environment. Participants will be asked to wear the insoles and activity tracker for at least 6 hours per day when at home. Compliance with this outcome will be measured in total hours the insoles are worn over the study period (one month).
Measured: One month
Validation of Physical Activity using Actigraph accelerometer
An Actigraph will be provided and worn during waking hours, while the participant is also wearing the insoles. Data extracted are counts per minutes, and are measurements of movement performed in both vertical and horizontal axis. The counts will be used to quantify the time the participant is inactive, low, moderate and / or in vigorous physical active.
Measured: One month
International Physical Activity Questionnaire-Short Form, IPAQ-SF
The IPAQ-SF is a self report questionnaire that assesses the types of intensity of physical activity and sitting time that people do as part of their daily lives. It is used estimate total physical activity in MET-min/week and time spent sitting in the 7 days prior to completing the questionnaire. It will be completed by participants aged 18 and over, at the start and at the end of the one-month insole wear time.
Measured: One day
PROMIS Pediatric Physical Activity Questionnaire
The pediatric activity questionnaire measures a child's self-report of short bouts of moderate to vigorous physical activity. This questionnaire is designed to measure constructs best recalled by children such as physiological response, symptoms, and short bouts of higher intensity activity. The questionnaire has an 8-item bank and is intended for use with children ages 8 to 17 years or with a parent proxy version for children aged 5 to 17 years. It will be completed at the start and at the end of the one month insole wear time and scores will calculated and range from 8-40.
Measured: One day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Feb 2025
- Study start1 May 2024
- Primary completion30 Dec 2027 (estimated)
- Study completion1 Apr 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular Atrophy Type 3Studies of the same condition, open and under way.
- More trials run by Columbia UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 106 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- Stevens Institute of Technology, Stanford University, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Boston Children's Hospital, Boston, MA, USA
- Responsible party
- Principal investigator, Jacqueline Montes, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06839469
- Sponsor's protocol ID
- AAAU9807
- Other IDs
- R01HD112908
- Status last verified
- Apr 2026
- First submitted
- 17 Feb 2025
- Last updated
- 9 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 9 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
- ClinicalTrials.gov ID
- NCT06839469
- Acronym / sponsor ID
- AAAU9807
- Keywords
- SMA, spinal muscular atrophy, duchenne muscular dystrophy, DMD, instrumented insole, neuromuscular disease, machine learning model, gait analysis
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 106 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- Stevens Institute of Technology, Stanford University, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Boston Children's Hospital, Boston, MA, USA
- Study start
- 1 May 2024 (actual)
- Primary completion
- 30 Dec 2027 (estimated)
- Study completion
- 1 Apr 2028 (estimated)
- First posted
- 21 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study sample will include 33 ambulatory SMA participants, 33 ambulatory DMD participants, and 40 healthy controls.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Six Minute Walk Test
Time frame: One day
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.
10 Meter Walk/Run
Time frame: One day
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.
Time Up and Go Test (TUG)
Time frame: One day
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.
Muscle Strength Testing with Hand-held Dynamometry (HHD)
Time frame: One day
HHD is used to assess the strength of muscles and is reported as the maximum strength exerted in pounds (lbs).
30 Second Sit to Stand Test (30STS)
Time frame: One day
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.
Ankle Range of Motion
Time frame: One day
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.
Knee Extension Range of Motion
Time frame: One day
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.
Hip Extension Range of Motion
Time frame: One day
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.
4 secondary outcomes
Free-living Testing of Instrumented Insoles
Time frame: One month
Validation of Physical Activity using Actigraph accelerometer
Time frame: One month
International Physical Activity Questionnaire-Short Form, IPAQ-SF
Time frame: One day
PROMIS Pediatric Physical Activity Questionnaire
Time frame: One day
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Apr 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy Type 3 and Duchenne Muscular Dystrophy (DMD), run by Columbia University at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 9 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jacqueline Montes, PT, EdD (212-305-8916, jm598@cumc.columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Six Minute Walk Test (time frame: One day). The study lists 8 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Apr 2026.