Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 81
- 试验地点
- 10
- 主要终点
- Change from baseline of muscle strength
研究概览
简要总结
NatHis-SMA is a prospective, longitudinal and interventional study of the natural history of patients with type 2 and 3 Spinal Muscular Atrophy (SMA). The purpose of this study is to characterize the disease course over 2 years and identify prognostic variables of the disease and biomarkers of SMA progression, as well as determine the best outcome measures for further therapeutics approaches.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 30 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Type 2 or 3 spinal muscular atrophy genetically confirmed
- •Age superior or equal to 2 years old up to 30 years of age included
- •For patients older than 6 years old, willing and able to comply with all protocol requirements and procedures.
- •For non-ambulant patients, able to sit upright in a wheelchair for at least three hours
- •Patients over 18 years of age and parent(s)/legal guardian(s) of patients < 18 years of age must provide written informed consent prior to participating in the study and informed assent will be obtained from minors at least 7 years of age when required by regulation.
- •In France only: Affiliated to or a beneficiary of a social security category
排除标准
- •Previously treated with an investigational drug within 6 months prior the recruitment in this study.
- •Other condition which may significantly interfere with the assessment of the SMA and is clearly not related to the disease
- •Current or anticipated participation in any therapeutic investigational clinical studies.
- •Patients with specific contraindication to MRI (i.e. metallic foreign body, claustrophobia, and others deemed to be prohibitive by the investigators) will be allowed to participate, but MRI will not be performed.
- •For women : pregnancy or current breastfeeding
结局指标
主要结局
Change from baseline of muscle strength
时间窗: Baseline and then every 6 months until end of the study, up to 24 months
Study-specific assessments: Grip and pinch strength
Change from baseline of motor function
时间窗: Baseline and then every 6 months until end of the study, up to 24 months
Study-specific assessments: Moviplate and MFM scores, upper extremity functional reaching volume, timed tests (time to rise from floor, time to walk 10 meters, time to climb and descend stairs, distance walked on the Six-Minute Walk Test)
次要结局
- Change from baseline of physical activity of upper limbs movements(Baseline and then every 6 months until end of the study, up to 24 months)
- Change from baseline of Biomarkers of SMA progression(Baseline and then every 6 months until end of the study, up to 24 months)
- Change from baseline of respiratory function(Baseline and then every 6 months until end of the study, up to 24 months)
- Change from baseline of skeletal muscle nuclear magnetic resonance (NMR) imaging (MRI)(Baseline and then every 12 months until the end of the study, up to 24 months)
- Change from baseline of electrophysiology measurements(Baseline and then every 6 months until end of the study, up to 24 months)