Spinal Muscular Atrophy Type 3NCT07400198
Gait and Bone Health in SMA
An observational study of Spinal Muscular Atrophy Type 3 and Ambulatory Spinal Muscular Atrophy, run by Jacqueline Montes at 1 site in United States.
Trial summary
The objective of this study is to understand how spatiotemporal and kinetic gait parameters are associated with bone health in pwSMA who are receiving DMT. We hypothesize that gait parameters are associated with BMD and can determine fracture risk in pwSMA. Read more about this study
- Who is it for?
- Ages 8 to 50 years
- Conditions the study is for
- Spinal Muscular Atrophy Type 3, Ambulatory Spinal Muscular Atrophy
- How many people
- 22 participants
- Where
- 1 siteUnited States
- Study dates
- 5 Mar 2026to 30 Jun 2027
- 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 8 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: The study sample will include 22 ambulatory SMA participants.
Who may be able to join
- Confirmed diagnosis of 5qSMA
- Between 8 and 50 years of age
- Able to walk 10 meters without support or an assistive device
- All participants who meet the inclusion criteria regardless of treatment status will be included, including those on adjuvant therapies, whether investigational or approved
Who cannot join
- Injury or surgery within previous 3 months that would impact ability to perform in-clinic gait assessments
- Unwilling or unable to comply with all study procedures
- Age less than 8 or over 50 years
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Columbia University Irving Medical Center
New York, New York, 10032
Jacqueline Montes, 212-305-8916, jm598@cumc.columbia.edu
Michael Lutzker, 9257055133, ml5121@cumc.columbia.edu
About this study
Official title: Identification of Gait-related Digital Biomarkers of Bone Health in Spinal Muscular Atrophy
The objective of this study is to understand how spatiotemporal and kinetic gait parameters are associated with bone health in pwSMA who are receiving DMT. We hypothesize that gait parameters are associated with BMD and can determine fracture risk in pwSMA. This is an observational study that involves one in-clinic visit (approximately 3 hours) with remote follow-up visits (approximately 15 minutes) every 3 months for 1 year to collect fracture and medical history. Each of the assessments included in this study are non-interventional and are not intended as a treatment nor are they at the level of standard of care.
Read the detailed description
Addressing bone health is a high priority and remains a concern for the SMA community despite the availability of DMTs. Fractures often have devastating, irrecoverable impacts on function, especially in ambulatory pwSMA. While the most recent standards of care for SMA recommend annual screening, supportive treatments are not recommended until there has been a fracture, a reactive approach which may not be enough to mitigate LBM. Implementing novel, wearable technology and machine learning (ML) models to identify fracture risk will lead to a proactive approach to manage bone health and attenuate the negative sequalae of fractures. This is an observational cross-sectional study of ambulatory children and adults with SMA. The aims of this study are to (1) Identify gait-related digital biomarkers of bone health in ambulatory pwSMA, (2) Determine the ability of digital biomarkers to differentiate between pwSMA with and without a history of fractures, and (3) Investigate the ability of risk profiles derived from the digital biomarkers to predict prospective fractures over one year.
- Keywords
- spinal muscular atrophy, SMA, instrumented insole, bone health, fracture, bone mineral density, gait, low bone mass
- Medical subject headings
- Spinal Muscular Atrophies of Childhood, Muscular Atrophy, Spinal, Fractures, Bone
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 8 years old by the time of enrollment with genetically confirmed SMA. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Dual X-Ray Absorptiometry (DXA)
Bone mineral density (BMD), a measure of the mineral content in bones is assessed using dual x-ray absorptiometry (DXA). DXA can be used to identify individuals with low bone mass (LBM). DXA uses low-power x-ray and is a safe and reliable measure validated to diagnose osteoporosis. DXA provides a t-score and z-score so that based on age, low bone mass can be appropriately determined. DXA also provides a subtotal BMD score as well as scores specific to certain body regions, both of which will be utilized in the first aim.
Measured: Baseline
Blood collection
Blood will be collected to assess for routine markers related to bone mineral density. Blood will be tested for levels of calcium, vitamin D, bone alkaline phosphatase (BALP), and C-terminal telopeptide of type I collagen (CTx). The amount of blood collected will be within hospital rules for children. The total amount of blood will be approximately 2 mL or 1/2 a teaspoon. BALP is a bone formation marker while CTx is a bone resorption marker. Calcium and vitamin D are known to be positively associated with BMD.
Measured: Baseline
Fracture history
Details regarding lifetime fracture history will be collected via questioning at the in-clinic visit and during remote follow up visits, every three months for one year. The participant will be asked to describe each incident separately, including the age at fracture, mechanism of injury (how it happened, its nature, and force), any preceding events like falls or dizziness, and associated symptoms. Fractures will be characterized by location, type and treatment (surgical or conservative).
Measured: Baseline, months 3, 6, 9, and 12
Fall history
Details regarding falls, that occurred within the past year, will be collected using a structured questionnaire at the in-clinic visit and during the one-year follow-up. Falls will be described by mechanism, environment and outcome.
Measured: Baseline, months 3, 6, 9 and 12
Collection of spatiotempoal and kinetic gait parameters using instrumented insoles (AI-Sole)
Stride-by-stride spatiotemporal and kinetic gait parameters will be collected with AI-Sole continuously during the 6MWT. Spatiotemporal parameters included stride length (SL), stride velocity (SV), percent time in stance phase (%St), and percent time in terminal double support (%DS). Kinetic parameters included the anteroposterior (AP-COP) and mediolateral (ML-COP) ranges of the center-of-pressure normalized by shoe size, as well as the Absolute COP-Cyclogram Asymmetry Index (|ASI|).
Measured: Baseline
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: Baseline
IPAQ-SF
A quantitative assessment of usual physical activity will be captured using the International Physical Activity Questionnaire Short Form (IPAQ-SF).The IPAQ-SF is a commonly used self-administered questionnaire designed to obtain internationally comparable data on health-related physical activity. The IPAQ-SF is composed of seven questions from four domains of physical activity, including vigorous and moderate physical activity, walking physical activity, and sitting time. A weighted total from vigorous physical activity, moderate physical activity, and walking physical activity is calculated to produce a total amount of physical activity in MET-min/week.
Measured: Baseline
Secondary outcomes (3)
Ten Meter Walk Run (10MWR)
The 10MWR is an objective evaluation of function that measures the speed at which an individual can complete 10 meters. Gait speed is a commonly used indicator in NMD, and this test can be done by either walking or running. The 10MWR has been demonstrated to be safe to administer in individuals with SMA.
Measured: Baseline
Timed Up and Go Test (TUG)
The TUG test, a method to assess balance and mobility, measures the time it takes an individual to stand up from a chair, walk 3 meters, turn around, and sit down in the same chair. In SMA, TUG scores are associated with total leg and knee flexor strength, gross motor function, the 10-meter walk/run, and 6MWT. TUG test is a sensitive and reliable measure of functional impairment in inherited neuromuscular disorders.
Measured: Baseline
30 Second Sit to Stand (30-STS)
The 30-STS test is used to evaluate basic muscle power and function. The participant is to complete as many sit-to-stands as possible, with or without using their hands for support, in 30 seconds.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Feb 2026
- Study start5 Mar 2026
- Primary completion30 Jun 2027 (estimated)
- Study completion30 Jun 2027 (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.
- 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
- Prospective
- Enrolment
- 22 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Jacqueline Montes
- Sponsor type
- University, hospital or other
- Collaborators
- Biogen
- Responsible party
- Sponsor-investigator, Jacqueline Montes, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07400198
- Sponsor's protocol ID
- AAAV3667
- Status last verified
- Mar 2026
- First submitted
- 3 Dec 2025
- Last updated
- 18 Mar 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 18 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Gait-related Digital Biomarkers of Bone Health in Spinal Muscular Atrophy
- ClinicalTrials.gov ID
- NCT07400198
- Acronym / sponsor ID
- AAAV3667
- Keywords
- spinal muscular atrophy, SMA, instrumented insole, bone health, fracture, bone mineral density, gait, low bone mass
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 22 participants (estimated)
- Lead sponsor
- Jacqueline MontesUniversity, hospital or other
- Collaborators
- Biogen
- Study start
- 5 Mar 2026 (actual)
- Primary completion
- 30 Jun 2027 (estimated)
- Study completion
- 30 Jun 2027 (estimated)
- First posted
- 10 Feb 2026 (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 objective of this study is to understand how spatiotemporal and kinetic gait parameters are associated with bone health in pwSMA who are receiving DMT. We hypothesize that gait parameters are associated with BMD and can determine fracture risk in pwSMA. This is an observational study that involves one in-clinic visit (approximately 3 hours) with remote follow-up visits (approximately 15 minutes) every 3 months for 1 year to collect fracture and medical history. Each of the assessments included in this study are non-interventional and are not intended as a treatment nor are they at the level of standard of care.
Detailed description
Addressing bone health is a high priority and remains a concern for the SMA community despite the availability of DMTs. Fractures often have devastating, irrecoverable impacts on function, especially in ambulatory pwSMA. While the most recent standards of care for SMA recommend annual screening, supportive treatments are not recommended until there has been a fracture, a reactive approach which may not be enough to mitigate LBM. Implementing novel, wearable technology and machine learning (ML) models to identify fracture risk will lead to a proactive approach to manage bone health and attenuate the negative sequalae of fractures. This is an observational cross-sectional study of ambulatory children and adults with SMA. The aims of this study are to (1) Identify gait-related digital biomarkers of bone health in ambulatory pwSMA, (2) Determine the ability of digital biomarkers to differentiate between pwSMA with and without a history of fractures, and (3) Investigate the ability of risk profiles derived from the digital biomarkers to predict prospective fractures over one year.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Spinal Muscular Atrophy | – | –Ambulatory children and adults at least 8 years old by the time of enrollment with genetically confirmed SMA. |
Who may qualify
- Ages
- 8 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- The study sample will include 22 ambulatory SMA participants.
Key inclusion criteria (4 listed)
- Confirmed diagnosis of 5qSMA
- Between 8 and 50 years of age
- Able to walk 10 meters without support or an assistive device
- All participants who meet the inclusion criteria regardless of treatment status will be included, including those on adjuvant therapies, whether investigational or approved
Key exclusion criteria (3 listed)
- Injury or surgery within previous 3 months that would impact ability to perform in-clinic gait assessments
- Unwilling or unable to comply with all study procedures
- Age less than 8 or over 50 years
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
Dual X-Ray Absorptiometry (DXA)
Time frame: Baseline
Bone mineral density (BMD), a measure of the mineral content in bones is assessed using dual x-ray absorptiometry (DXA). DXA can be used to identify individuals with low bone mass (LBM). DXA uses low-power x-ray and is a safe and reliable measure validated to diagnose osteoporosis. DXA provides a t-score and z-score so that based on age, low bone mass can be appropriately determined. DXA also provides a subtotal BMD score as well as scores specific to certain body regions, both of which will be utilized in the first aim.
Blood collection
Time frame: Baseline
Blood will be collected to assess for routine markers related to bone mineral density. Blood will be tested for levels of calcium, vitamin D, bone alkaline phosphatase (BALP), and C-terminal telopeptide of type I collagen (CTx). The amount of blood collected will be within hospital rules for children. The total amount of blood will be approximately 2 mL or 1/2 a teaspoon. BALP is a bone formation marker while CTx is a bone resorption marker. Calcium and vitamin D are known to be positively associated with BMD.
Fracture history
Time frame: Baseline, months 3, 6, 9, and 12
Details regarding lifetime fracture history will be collected via questioning at the in-clinic visit and during remote follow up visits, every three months for one year. The participant will be asked to describe each incident separately, including the age at fracture, mechanism of injury (how it happened, its nature, and force), any preceding events like falls or dizziness, and associated symptoms. Fractures will be characterized by location, type and treatment (surgical or conservative).
Fall history
Time frame: Baseline, months 3, 6, 9 and 12
Details regarding falls, that occurred within the past year, will be collected using a structured questionnaire at the in-clinic visit and during the one-year follow-up. Falls will be described by mechanism, environment and outcome.
Collection of spatiotempoal and kinetic gait parameters using instrumented insoles (AI-Sole)
Time frame: Baseline
Stride-by-stride spatiotemporal and kinetic gait parameters will be collected with AI-Sole continuously during the 6MWT. Spatiotemporal parameters included stride length (SL), stride velocity (SV), percent time in stance phase (%St), and percent time in terminal double support (%DS). Kinetic parameters included the anteroposterior (AP-COP) and mediolateral (ML-COP) ranges of the center-of-pressure normalized by shoe size, as well as the Absolute COP-Cyclogram Asymmetry Index (|ASI|).
Six Minute Walk Test
Time frame: Baseline
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.
IPAQ-SF
Time frame: Baseline
A quantitative assessment of usual physical activity will be captured using the International Physical Activity Questionnaire Short Form (IPAQ-SF).The IPAQ-SF is a commonly used self-administered questionnaire designed to obtain internationally comparable data on health-related physical activity. The IPAQ-SF is composed of seven questions from four domains of physical activity, including vigorous and moderate physical activity, walking physical activity, and sitting time. A weighted total from vigorous physical activity, moderate physical activity, and walking physical activity is calculated to produce a total amount of physical activity in MET-min/week.
3 secondary outcomes
Ten Meter Walk Run (10MWR)
Time frame: Baseline
Timed Up and Go Test (TUG)
Time frame: Baseline
30 Second Sit to Stand (30-STS)
Time frame: Baseline
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 18 Mar 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.
1 site 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 Ambulatory Spinal Muscular Atrophy, run by Jacqueline Montes at 1 site 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 18 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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 Cara Kanner, PT, DPT, EdD (516-581-8150, chy2112@cumc.columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Dual X-Ray Absorptiometry (DXA) (time frame: Baseline). The study lists 7 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 18 Mar 2026.