Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 106
- 试验地点
- 3
- 主要终点
- Six Minute Walk Test
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 5 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •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
研究组 & 干预措施
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.
Spinal Muscular Atrophy
Ambulatory children and adults at least 5 years old by the time of enrollment with genetically confirmed SMA.
结局指标
主要结局
Six Minute Walk Test
时间窗: 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
时间窗: 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)
时间窗: 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)
时间窗: 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)
时间窗: 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
时间窗: 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
时间窗: 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
时间窗: 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.
次要结局
- Free-living Testing of Instrumented Insoles(One month)
- Validation of Physical Activity using Actigraph accelerometer(One month)
- International Physical Activity Questionnaire-Short Form, IPAQ-SF(One day)
- PROMIS Pediatric Physical Activity Questionnaire(One day)
研究者
Jacqueline Montes
Principal Investigator
Columbia University