Gait and Bone Health in SMA

NCT07400198 | Recruiting

• 1 other identifier: AAAV3667
• Study Type: observational
• Target: 22
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Spinal Muscular Atrophy Type 3; Ambulatory Spinal Muscular Atrophy

Keywords

spinal muscular atrophy; SMA; instrumented insole; bone health; fracture; bone mineral density; gait; low bone mass

Outcome Measures

Primary Outcomes (7)

• 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.

  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.

  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).

  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.

  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\|).

  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.

  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.

  Baseline

Secondary Outcomes (3)

• Ten Meter Walk Run (10MWR)

  Baseline

• Timed Up and Go Test (TUG)

  Baseline

• 30 Second Sit to Stand (30-STS)

  Baseline

Other Outcomes (1)

• SMA EFFORT

  Baseline

Study Arms (1)

Spinal Muscular Atrophy

Ambulatory children and adults at least 8 years old by the time of enrollment with genetically confirmed SMA.

Eligibility Criteria

• Age: 8 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study sample will include 22 ambulatory SMA participants.

You may qualify if:

• Confirmed diagnosis of 5qSMA
• Between 8 and 50 years of age
• Able to walk 10 meters without support or an assistive device

You may not qualify if:

• 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

Sponsors & Collaborators

• Jacqueline Montes: lead
• Biogen: collaborator

Study Sites (1)

Columbia University Irving Medical Center

New York, New York, 10032, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood for assay of bone biomarkers: calcium serum, 25-hydroxyvitamin D2/D3 (vitamin D), bone-specific alkaline phosphatase, C-terminal telopeptide serum

MeSH Terms

Conditions

Spinal Muscular Atrophies of Childhood; Muscular Atrophy, Spinal; Fractures, Bone

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Wounds and Injuries

Central Study Contacts

Cara Kanner, PT, DPT, EdD

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor of Rehabilitation and Regenerative Medicine

Study Record Dates

• First Submitted: December 3, 2025
• First Posted: February 10, 2026
• Study Start: March 5, 2026
• Primary Completion (Estimated): June 30, 2027
• Study Completion (Estimated): June 30, 2027
• Last Updated: March 18, 2026

Record last verified: 2026-03

Locations

US (1)