Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies, IMUSMA Project
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 35
- 试验地点
- 2
- 主要终点
- Change in the 95th percentile of the norm of acceleration
研究概览
简要总结
The aim of the study is to propose a method for quantifying motor function in infants with spinal muscular atrophy treated with innovative therapies using inertial sensors.
详细描述
Infantile spinal muscular atrophy is a common disease (the second most common fatal autosomal recessive disease after cystic fibrosis), neurodegenerative disorders of childhood causing severe motor impairment and a risk to life through respiratory failure in the most severe forms.
Innovative therapies (gene therapy or pharmacogenetics) have recently proven their effectiveness on survival criteria. Nevertheless, the motor benefit of these therapies must be evaluated more precisely.
Currently, the reference methods for motor development assessment are fairly robust semi-quantitative motor scales that lack sensitivity and do not reflect function (CHOPINTEND, HINE, BAYLEY SCALE, MFM and CGI-scale).
Advances in recent techniques have enabled the emergence of non-invasive, secure, easy-to-use inertial sensors in routine clinical practice that allow quantification of infant movements.
The aim of the study is to propose a method for quantifying motor function in infants with spinal muscular atrophy treated with innovative therapies using inertial sensors.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- — 至 2 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Infants of both sexes
- •Suffering from spinal muscular atrophy (diagnosis by genetic study "homozygous deletion of SMN1")
- •Followed up by the Necker Neuromuscular Reference Center (GNMH)
- •Eligible for innovative therapy (gene therapy or pharmacogenetics)
- •age of onset of the disease <1 year
- •no severe respiratory impairment (dependence on ventilatory support for more than 16 hours per day) or bulbar involvement
- •decision of treatment by a Multidisciplinary Consultation Meeting national of experts
- •Benefiting from social security scheme
- •Informed consent signed by holders of parental authority and the investigator
排除标准
- •Non-consent of one of the holders of parental authority
- •Respiratory instability (dependence on ventilatory support for more than 16 hours per day) or hemodynamics
- •Contraindication to innovative therapy
- •History of another disease impacting motor skills (neonatal suffering, etc.)
结局指标
主要结局
Change in the 95th percentile of the norm of acceleration
时间窗: Month 0 to month 24
95th percentile of the norm of the acceleration of the feet and the arms.
次要结局
- Change in the 95th percentile of the norm of angular velocity(Month 0 to month 24)
- Change in the 95th percentile of the accelerations allong the vertical axis and the horizontal plane(Month 0 to month 24)
- Change in the acceleration's entropy(Month 0 to month 24)
- Change in the 95th percentile of the angular velocities allong the vertical axis and the horizontal plane.(Month 0 to month 24)