Active-NBS Liege - Monitoring the Motor Development of Children With Duchenne Muscular Dystrophy or Spinal Muscular Atrophy Identified Through Newborn Screening
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 2
- 主要终点
- Digital Mobility Monitoring Compliance
研究概览
简要总结
The Active NBS Liege study is a monocentric, academic, fully remote, observational study designed to validate digital measures of motor development in children with spinal muscular atrophy (SMA) or Duchenne muscular dystrophy (DMD) identified through newborn screening, family testing, or incidental diagnosis. The study will enroll 100 children and follow them longitudinally for up to 30 months. Participants are remotely recruited, and all procedures, including consent, questionnaires, and follow-up visits, are conducted by phone or video conferencing without any hospital visits. Children will use age-appropriate wearable devices at home: MAIJU®, a sensorized garment for non-ambulant infants, and Syde®, an ankle-worn sensor for ambulant children. Data collection includes digital motor endpoints, clinical information, and quality of life (PedsQL). Primary objectives are to validate digital biomarkers of motor development, while secondary objectives include early identification of motor deficits, modeling motor trajectories, and quantifying genotype-related differences. Exploratory analyses will assess gait parameters such as stride velocity 95th centile (SV95C) and compare motor outcomes across genetic profiles and treatment exposure. Risks are minimal, limited to the use of non-invasive sensors with no known side effects.
详细描述
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are severe, progressive, and life-limiting neuromuscular disorders that manifest during early childhood. Both conditions are characterized by motor function decline, leading to severe disability and premature mortality. The availability of disease-modifying therapies has dramatically changed the clinical landscape, but their effectiveness is strongly dependent on very early initiation, ideally before symptom onset.
Newborn screening (NBS) for SMA has now been implemented in several countries, enabling the identification of affected infants at birth. This shift creates a new challenge: the need to monitor presymptomatic or minimally symptomatic children over time with sensitive, reliable, and age-appropriate tools. Conventional motor function scales were designed for older children and are not sufficiently adapted for infants and toddlers. As a result, there is a critical gap in longitudinal assessment during the first years of life, a period when therapeutic interventions may have the greatest impact.
The Active NBS study was designed to address this unmet need. This is a monocentric, fully remote, academic, observational study that leverages wearable digital technologies to monitor motor development in very young children with SMA or DMD. The study is conducted entirely at a distance, with no requirement for hospital visits, thereby reducing the burden on families and improving accessibility.
Study Objectives:
The primary objective is to validate digital biomarkers of early motor development in children diagnosed with SMA or DMD. Secondary objectives include the early detection of motor deficits, quantification of developmental delays according to genetic subtype, and modeling of motor trajectories during the first years of life. Exploratory objectives focus on gait analysis, including stride velocity 95th centile (SV95C), and comparisons of motor outcomes across genetic backgrounds and treatment exposure.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 4 Months 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Genetically confirmed SMA and avalaible MSNA2 copy number:
- •Identified by newborn screening,
- •Identified by family screening, or incidental diagnosis in pre-symptomatic stage
- •Treated (or follow-up possible for patients with 4 SMN2 copies)
- •Genetically confirmed DMD:
- •Identified by newborn screening,
- •Identified by family screening, or incidental diagnosis in pre-symptomatic stage
- •Age < 4 years at inclusion
- •Legal guardian able to provide informed consent
排除标准
- •Any acute or chronic condition that, in the investigator's opinion, significantly interferes with assessments and/or motor development.
- •Participation in a therapeutic trial.
- •Lack of internet connection.
结局指标
主要结局
Digital Mobility Monitoring Compliance
时间窗: 4 weeks of recording periods every 3 months over 2 years
Measure of participant adherence to wearing the Syde® device: total recording time.
Digital Mobility Monitoring Compliance
时间窗: 1 day of recording periods every month over 2 years
Measure of participant adherence to wearing the MAIJU® device using total recording time.
Reliability
时间窗: Baseline, 1 year, 2 years.
Inter Class Correlation (ICC2K) when comparing the first and the second half of recordings that includes more than 100 hours AND more than 2000 steps
Group Differences in Digital Variables
时间窗: Age 2, 3 and 4 years
Comparison of digital mobility metrics across subgroups defined by the number of SMN2 copies (SMA patients) and age's symptom appearance with 1. Patients with SMA symptoms at treatment initiation 2. Patients with 2 copies of SMN2 and no symptoms at treatment initiation 3. Patients with 3 copies of SMN2 and no symptoms at treatment initiation 4. Patients with 4 copies of SMN2 5. Healthy controls
Walking Pattern Characteristics
时间窗: 4 weeks of recording periods every 3 months over 2 years
Analysis of walking sequences: maximal walking sequence duration
次要结局
未报告次要终点
研究者
Tamara DANGOULOFF
Dr
Centre Hospitalier Universitaire de Liege