Identification of Gait-related Digital Biomarkers of Bone Health in Spinal Muscular Atrophy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 22
- 试验地点
- 1
- 主要终点
- Dual X-Ray Absorptiometry (DXA)
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 8 Years 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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
研究组 & 干预措施
Spinal Muscular Atrophy
Ambulatory children and adults at least 8 years old by the time of enrollment with genetically confirmed SMA.
结局指标
主要结局
Dual X-Ray Absorptiometry (DXA)
时间窗: 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
时间窗: 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
时间窗: 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
时间窗: 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)
时间窗: 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
时间窗: 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
时间窗: 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.
次要结局
- Ten Meter Walk Run (10MWR)(Baseline)
- Timed Up and Go Test (TUG)(Baseline)
- 30 Second Sit to Stand (30-STS)(Baseline)
研究者
Jacqueline Montes
Professor of Rehabilitation and Regenerative Medicine
Columbia University